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. 2021 Jul 20;22(14):7730. doi: 10.3390/ijms22147730

Table A1.

nDNA models.

Gene Disease Cell Line ID Mutation a Cell Line Origin b Gene Editing /Reprogramming Pluripotency Trilineage
Potential		 Karyotype;
Lineage
Validation c 		Mycoplasma Check Ref.
AARS2 COXPD8 LUMCi024-A p.[(R958*)]; [(R592W);(V730M)] M; 4 days; Fib Sendai virus Morphology; IF; FACS EB
differentiation		 G-banding; Yes Yes [193]
AARS2 COXPD8 LUMCi025-A p.[(R958*)]; [(R592W);(V730M)] M; 1 day; Fib Sendai virus Morphology; IF; FACS EB
differentiation		 G-banding; Yes Yes [193]
ACO2 DOA IISHDOi006-A p.[(E667K)];[=] M; 30 yr; Fib Sendai virus Morphology; AP; qPCR; IF EB
differentiation		 G-banding; Yes Yes [194]
AIFM1 AN CPGHi003-A p.[(R422Q)];[0] M; 49 yr; PBMC Episomal
vectors		 Morphology;
RT-qPCR; IF		 EB
differentiation		 G-banding; Yes Yes [195]
ATAD3A HSP HEL142 (2 clones) p.[(G355D)];[=] F; 35 yr; Fib Episomal
vectors		 qPCR; IF N/D N/D N/D [196]
C1QBP COXPD XACHi010-A p.[(L275F)]; [(L275F)] M; 14 yr; PBMC Sendai virus Morphology; IF; FACS Trilineage
differentiation		 G-banding; Yes Yes [197]
COQ2 MSA-C MSA_A (3 clones) p.[(R387*)]; [(V393A)] M; 61 yr; PBMC Episomal
vectors		 Morphology; IF Teratoma G-banding; N/D N/D [198]
COQ4 CoQ10
deficiency		 CQ4-Ipsc (4 clones) p.[(E161D)];[=] F; 4 yr; Fib Sendai virus Morphology; AP; RT-qPCR; IF; FACS;
hypomethylation		 Teratoma G-banding; Yes Yes [199,200]
COX6A2 CIV
deficiency		 WAe009-A-47 p.[A16Lfs*18]; [A16Lfs*18] F; hESC-WA09 CRISPR-Cas9
induced
mutation 		Morphology;
RT-qPCR; IF; FACS 		Teratoma G-banding; Yes Yes [105]
DGUOK MTDPS3 DGUOKΔ14/Δ5 iPSC p.[W166*]; [H167Lfs*213] M; iPS-SV20 CRISPR-Cas9
induced
mutation		 N/D N/D N/D N/D [131]
DGUOK MTDPS Patient 1 p.[F256*];[F256*] F; 2 mo; Fib Retrovirus Morphology N/D G-banding; N/D N/D [132]
DGUOK MTDPS Patient 2 [p.A2S; c.591G > A]; [c.142 + 1G > A], M; 2 mo; Fib Retrovirus Morphology N/D G-banding; N/D N/D [132]
DNAJC19 DCMA Patient 1 c.[130-1G > C]; [130-1G > C] F; 1.5 yr; PBMC Sendai virus IF N/D SNP microarray; N/D N/D [201]
DNAJC19 DCMA Patient 2 c.[130-1G > C]; [130-1G > C] M; 11 yr; PBMC Sendai virus IF N/D SNP microarray; N/D N/D [201]
DNAJC19 DCMA LIBUCi001-A c.[130-1G > C]; [130-1G > C] M; 8 yr; Fib Sendai virus Morphology; IF; FACS EB
differentiation		 G-banding; Yes Yes [202]
DNAJC19 DCMA LIBUCi002-A c.[130-1G > C]; [130-1G > C] F; 10 yr; Fib Sendai virus Morphology; IF; FACS EB
differentiation		 G-banding; Yes Yes [202]
DNAJC19 DCMA JMUi001-A p.[(A44Vfs*12)];[(S46Rfs*3)] M; iPS- JMUi001-A. CRISPR-Cas9
induced
mutation		 Morphology; IF; FACS EB
differentiation		 G-banding; Yes Yes [202]
ECHS1 Leigh-like
syndrome		 UOMi001-A p.[(A172V)]; [(K284Pfs*7)] M; 13 yr; PBMC Sendai virus Morphology; qPCR; IF EB
differentiation		 KaryoStat analysis; Yes Yes [203]
FBXL4 MTDPS13 SHCDNi001-A p.[(L332Tfs*3)];[(L332Tfs*3)] F; 1 yr; PBMC; Sendai virus Morphology; IF; FACS Trilineage
differentiation		 G-banding; Yes Yes [204]
GDAP1 CMT2K CMT2-FiPS4F1 p.[(Q163*)];
[(T288Nfs*3)]		 M; 45 yr; Fib Sendai virus Morphology; qPCR; IF EB
differentiation		 G-banding; Yes N/D [205]
GFM1 Mitochondrial
encephalopathy		 GFM1SV.25 p.[G469Vfs*84];[R671C] F; 5.5 yr; Fib Sendai virus Morphology; AP; qPCR; IF;
hypomethylation		 EB
differentiation		 G-banding; Yes N/D [206]
MFN2 CMT2A Patient 1
(3 clones)		 p.[(R364W)];[=] M; 42 yr; Fib Retrovirus Morphology; qPCR; IF EB
differentiation		 G-banding; Yes N/D [207]
MFN2 CMT2A CMT2A-1
(3 clones)		 p.[(A383V)];[=] F; 7 yr; Fib Episomal
vectors		 Morphology;
RT-PCR; IF		 Yes (data not shown) N/D N/D [191]
MFN2 CMT2A CMT2A-2
(3 clones)		 p.[(A383V)];[=] F; 12 yr; Fib Episomal
vectors		 Morphology;
RT-qPCR; IF		 Yes (data not shown) N/D N/D [191]
MFN2 CMT2A ZJUCHi002-A p.[(P251L)];[=] M; 8 yr; Urine cells Retrovirus Morphology; AP; qPCR; IF EB
differentiation		 G-banding; Yes Yes [208]
MFN2 MSL JUCTCi012-A p.[(R707W)]; [(R707W)] F; 39 yr; Fib Sendai virus Morphology; IF; FACS EB
differentiation		 G-banding; Yes Yes [209]
NDUFS4 Leigh
syndrome		 NDU_1 p.[(K154fs)];[(K154fs)] M; 5 mo; Fib Sendai virus N/D N/D SNP microarray; Yes Yes [99]
NDUFS4 Leigh
syndrome		 NDU_2 p.[(R106*)]; [(R106*)] F; 4 mo; Fib Sendai virus N/D N/D SNP microarray; Yes Yes [99]
NDUFV1 Leigh
syndrome		 UOMi002-A p.[(Y177Lfs*2)];[(E214K)] F; 2.5 yr; PBMC Sendai virus Morphology; IF EB
differentiation		 hPSC Genetic Analysis Kit; Yes Yes [210]
OPA1 DOA VO-iPSC c.[(2496+1G > T)];[=] Fib Retrovirus/
Sendai virus		 IF Teratoma N/D N/D [211]
OPA1 DOA OL-iPSC c.[(2496+1G > T)];[=] Fib Retrovirus/
Sendai virus		 IF Teratoma N/D N/D [211]
OPA1 DOA ‘plus’ Oex2054SV.4 p.[(Q621*)];[=] M; Fib Sendai virus Morphology; AP; qPCR; IF;
hypomethylation		 EB
differentiation		 G-banding; Yes N/D [212]
OPA1 Behr
syndrome		 iPS-OPA1-BEHR c.[610+364G>A];p.[I437M] F; 48 yr; Fib Episomal
vectors		 AP; RT-qPCR; IF EB
differentiation		 SNP microarray; Yes N/D [213]
OPA1 DOA ‘plus’ IISHDOi003-A p.[(S545R)];[=] M; 43 yr; Fib Sendai virus Morphology; AP; qPCR; IF EB
differentiation		 G-banding; Yes Yes [214]
OPA1 Parkinson’s
disease 		PD-OPA1 G488R
(2 clones)		 p.[G488R];[=] M; 74 yr; Fib Sendai virus Morphology; qPCR; IF Trilineage
differentiation 		G-banding; N/D N/D [119]
OPA1 Parkinson’s
disease		 PD-OPA1 A495V #72 p.[A495V[;[=] M; 70 yr; Fib Sendai virus Morphology; qPCR; IF Trilineage
differentiation 		G-banding; N/D N/D [119]
OPA1 Parkinson’s
disease		 Opa1P
(2 clones)		 c.[(33-34ins9)];[=] M; 62 yr; Fib Sendai virus Morphology;
Pluritest; FACS		 N/D SNP microarray; Yes Yes [120]
OPA1 DOA Opa1
(2 clones)		 c.[(33-34ins9)];[=] F; 84 yr; Fib Sendai virus Morphology;
Pluritest; FACS		 N/D SNP microarray; Yes Yes [120]
OPA1 DOA OPA1+/− hESCs
(2 clones)		 N/D
(haploinsufficiency)		 F; hESC-WA22 CRISPR-Cas9 induced
mutation		 IF N/D SNP microarray; N/D N/D [104]
OPA1 DOA OPA1+/- iPSC 1 p.[(V958Gfs*3)];[=] M; PBMC Sendai virus N/D N/D N/D N/D [104]
OPA1 DOA OPA1+/- iPSC2 p.[(V958Gfs*3)];[=] M; PBMC Sendai virus N/D N/D N/D N/D [104]
OPA1 DOA BIOi002-A c.[2708_
2711delTTAG];[=]		 M; 27 yr; PBMC Episomal
vectors		 Morphology; RT-PCR; FACS Teratoma G-banding; Yes Yes [215]
PDK3 CMTX6 iPSCCMTX6 p.[(R158H)];[0] M; Fib Episomal
vectors		 RT-qPCR; IF N/D G-banding; Yes N/D [216]
PMPCB Leigh-like
syndrome		 DII-2 iPSC (3 clones) p.[I422T];[I422T] M; Fib Episomal
vectors		 IF; PluriTest N/D G-banding; N/D Yes [217]
POLG Alpers
syndrome		 AHS iPS 1 p.[A467T];c.[1251-2A > T] M; 3.5 yr; Fib Retrovirus Morphology; AP; RT-qPCR; IF Teratoma; EB differentiation G-banding; N/D N/D [129]
POLG Alpers
syndrome		 AHS iPS 2 p.[A467T];c.[3626_3629dup] F; 2 yr; Fib Retrovirus AP; Morphology; RT-qPCR; IF Teratoma; EB differentiation G-banding; N/D N/D [129]
POLG N/D PG64SV.2 p.[(W748S)];
[(W748S)]		 F; 36 yr; Fib Sendai virus Morphology; AP; qPCR; IF;
hypomethylation		 EB
differentiation		 G-banding; Yes N/D [218]
POLG PEO and Parkinson’s disease CSC-35
(3 clones)		 p.[(Q811R)];[=] F; 24 yr; Fib Sendai virus Morphology; AP; IF EB
differentiation 		G-banding; Yes N/D [190]
POLG PEO WS5A
(3 clones)		 p.[W748S];[W748S] F; Fib Retrovirus Morphology; RT-qPCR; IF; FACS; Hep, CM, and neuronal
differentiation 		G-banding; N/D Yes [125,126]
POLG PEO CP2A
(2 clones)		 p.[A467T];
[W748S]		 M; Fib Retrovirus Morphology; RT-qPCR; IF; FACS Hep, CM, and neuronal
differentiation 		G-banding; N/D Yes [125,126]
RRM2B MTDPS8A/B RRM2B−/− iPSC p.[R36Sfs*55]; [R36Sfs*55] M; iPS-SV20 CRISPR-Cas9
induced
mutation		 N/D N/D N/D N/D [131]
SAMHD1 AGS PEIi002
(3 clones)		 homozygous exon 14 and 15 deletion M; PBMC Sendai virus Morphology; RT-qPCR; IF Trilineage
differentiation		 CGH-array; Yes Yes [219]
SAMHD1 AGS hSAMHD1-R290H+Q548X p.[(R290H)];[(Q548*)] M; PBMC Sendai virus FACS EB
differentiation		 G-banding; Yes N/D [220]
SCO2 CIV
deficiency		 SCO2G193S p.[(G193S)];
[(G193S)]		 M; 4 mo; Fib Lentivirus IF Teratoma G-banding; N/D N/D [137]
SCO2 CIV
deficiency		 SCO2E140K p.[(E140K)]; c.[(17ins(19))] d M; 13 wk; Fib Lentivirus IF Teratoma G-banding; N/D N/D [137]
SURF1 Leigh
syndrome		 SURF1_Mut: S1 p.[(V177G)];
[(V177G)]		 M; 9 yr; Fib Sendai virus RT-PCR; IF EB
differentiation		 SNP microarray and G-banding; Yes Yes [99]
SURF1 Leigh
syndrome		 SURF1_Mut: S2 p.[(G257R)];
[(G257R)]		 M; 20 mo; Fib Sendai virus RT-PCR; IF EB
differentiation		 SNP microarray, G-banding and WGS; Yes Yes [99]
SURF1 Leigh
syndrome		 C1_Mut
(2 clones)		 p.[(G257R)];
[(G257R)]		 F; iPS-XM001 CRISPR-Cas9
induced
mutation 		N/D N/D SNP microarray;
Yes		 Yes [99]
TAZ Barth
syndrome		 TAZ10
(2 clones)		 p.[G197V];[0] M; Fib Lentivirus Morphology; AP;
RT-PCR; IF;
hypomethylation		 Teratoma; EB differentiation N/D N/D [221]
TAZ Barth
syndrome		 TAZ13
(3 clones)		 c.[110-1G > C];[0] M; Fib Lentivirus Morphology; AP;
RT-PCR; IF;
hypomethylation		 Teratoma; EB differentiation N/D N/D [221]
TAZ Barth
syndrome		 TAZ15
(3 clones)		 p.[R57L];[0] M; Fib Lentivirus Morphology; AP;
RT-PCR; IF;
hypomethylation		 Teratoma; EB differentiation N/D N/D [221]
TAZ Barth
syndrome		 BTH-H p.[(D173Tfs*12)];[0] M; Fib Retrovirus Morphology;
RT-qPCR; IF 		Teratoma G-banding;
N/D		 N/D [109]
TAZ Barth syndrome BTH-C p.[(S110P)];[0] M; Fib Modified RNA Morphology;
RT-qPCR; IF 		Teratoma G-banding;
N/D		 N/D [109]
TAZ Barth
syndrome		 PGP1-TAZc.517delG p.[(D173Tfs*12)];[0] M; iPS-PGP1 CRISPR-Cas9
induced
mutation		 Morphology;
RT-qPCR; IF 		Teratoma G-banding;
N/D		 N/D [109]
TAZ Barth
syndrome		 PGP1-TAZc.517ins p.[(D173Efs)];[0] M; iPS-PGP1 CRISPR-Cas9
induced
mutation		 Morphology;
RT-qPCR; IF 		Teratoma G-banding;
N/D		 N/D [109]
TAZ Barth
syndrome		 WMUi002-A p.[(D173Efs)];[0] M; 6yr; urine cells Sendai virus qPCR; IF EB
differentiation		 G-banding; Yes Yes [222]
TRNT1 RP P1
(4 clones)		 p.[(E43del)];
[(S418Vfs)]		 M; 19 yr; Fib Sendai virus Morphology; RT-PCR; IF Taqman mRNA scorecard G-banding; N/D N/D [223]
TRNT1 RP P2
(4 clones)		 p.[(S418Kfs)]; c.[609-26T > C] M; 21 yr; Fib Sendai virus Morphology; RT-PCR; IF Taqman mRNA scorecard G-banding; N/D N/D [223]
TRNT1 RP P3
(4 clones)		 p.[(S418Kfs)]; c.[609-26T > C] M; 18 yr; Fib Sendai virus Morphology; RT-PCR; IF Taqman mRNA scorecard G-banding; N/D N/D [223]

Abbreviations: AGS, Aicardi-Goutières syndrome; AN, auditory neuropathy; AP, Alkaline phosphatase staining; CIV, complex IV; CM, cardiomyocyte; CMT, Charcot-Marie-Tooth disease; CoQ10, coenzyme Q10; COXPD, combined oxidative phosphorylation deficiency; DCMA, dilated cardiomyopathy with ataxia; DOA, dominant optic atrophy; EB, embryoid body; F, female; Fib, fibroblasts; Hep, hepatocyte; hypomethylation, hypomethylation of the OCT4 and NANOG promoter; HSP, hereditary spastic paraplegia; IF, Immunofluorescence; M, male; MSA, multiple system atrophy; mo, months; morphology, ES-like colony morphology; MSL, multiple symmetric lipomatosis; MTDPS, mtDNA depletion syndrome; N/D, no data; PBMC, peripheral blood mononuclear cells; PEO, progressive external ophthalmoplegia; RP, retinitis pigmentosa; wk, weeks; yr, year. a Unless provided in the original publication, consequences of mutations at the protein level were predicted based on the canonical transcript of the respective genes using the hg38 reference genome. Complicated mutations affecting splicing/intronic mutations are left in cDNA format. b Includes gender (if reported); age of patient (if reported); parental cell line. c Lineage validation comprises a range of genetic analysis techniques that permit DNA fingerprinting-based lineage tracing to the parental cell line. d Allele is listed according to original publication, due to ambiguity of the reported variant.