Table 1.
Genome sequencing of 20 cell lines.
| Cell line | Mutation gene | Position | Variations | Location | Homozygous/heterozygous | Variant classification | Traits | Disease |
|---|---|---|---|---|---|---|---|---|
| UC-1 | TGM1 | 14:24,261,783 | c.420A > G p.(Ile140Met) |
Missense | Heterozygous | Likely pathogenic | Recessive | Congenital Ichthyosis |
| ADSL | 22:40,358,950 | c.569G > A p.(Arg190Gln) |
Missense | Heterozygous | Likely pathogenic | Recessive | Adenylosuccinase deficiency | |
| MYO15A | 17:18,154,745 | c.8215delG p.(Ala2739ProfsTer15) |
Frameshift | Heterozygous | Not reported on ClinVar (**) | Recessive | Deafness 3 | |
| UC-2 | SLC22A5 | 5:132,385,435 | c.832C > T p.(Arg278Ter) |
Stop-gained | Heterozygous | Pathogenic | Recessive | Systemic primary carnitine deficiency |
| POLG | 15:89,319,065 | c.3139C > T p.(Arg1047Trp) |
Missense | Heterozygous | Likely Pathogenic | Recessive | Alpers disease | |
| CCDC88C | 14:91,321,256 | c.1391G > A p.(Arg464His) |
Missense | Heterozygous | Not reported on ClinVar (**) | Dominant | Spinocerebellar ataxia | |
| UC-3 | AGPAT2 | 9:136,674,750 | c.646A > T p.(Lys216Ter) | Stop-gained | Heterozygous | Likely pathogenic | Recessive | Lipodystrophy type 1 |
| UROC1 | 3:126,508,419:126,508,418 | c.405_408dupGGCT p.(Gln137GlyfsTer57) |
Frameshift | Heterozygous | Not reported on ClinVar (*) | Recessive | Urocanase deficiency | |
| UC-4 | MMACHC | 1:45,508,870: 45,508,882 |
c.507_519delAGAGGTGCCAGAT p.(Glu170CysfsTer36) |
Frameshift | Heterozygous | Pathogenic | Recessive | Methylmalonic Aciduria and homocystinuria, type cblC |
| USH2A | 1:215,671,222 | c.13883delC p.(Pro4628LeufsTer6) |
Frameshift | Heterozygous | Not reported on ClinVar (*) | Recessive | Usher syndrome 2A/Retinitis pigmentosa | |
| UC-5 | HPS4 | 22:26,458,578 | c.1714-1G > T | Splice acceptor | Heterozygous | Not reported on ClinVar (*) | Recessive | Hermansky-Pudlak syndrome 4 |
| PAH | 12:102,855,326 | c.517G > T p.(Gln172His) | Missense | Heterozygous | Not reported on ClinVar (**) | Recessive | Phenylketonuria | |
| G6PD | X:154,533,122 | c.961G > A p.(Val321Met) |
Missense | Heterozygous | Likely pathogenic | Dominant | G6PD deficiency | |
| ITGA3 | 17:50,081,328 | c.2839C > T p.(Arg947Ter) |
Stop_gained | Heterozygous | Not reported on ClinVar (**) | Recessive | Congenital interstitial lung disease, nephrotic syndrome, epidermolysis bullosa | |
| UC-6 | ATP7B | 13:51,950,132 | c.2605G > A p.(Gly869Arg) |
Missense | Heterozygous | Pathogenic | Recessive | Wilson disease |
| TTR | 18:31,592,974 | c.148G > A p.(Val50Met) |
Missense | Heterozygous | Pathogenic | Dominant | Familial amyloidosis with polyneuropathy type 1 | |
| SLC34A2 | 4:25,662,843 | c.250+1G > A | Splice donor | Heterozygous | Not reported on ClinVar (*) | Recessive | Pulmonary alveolar microlithiasis | |
| TPM3 | 1:154,159,025 | c.688C > T p.Arg230Ter |
Missense | Heterozygous | Not reported on ClinVar (*) | Dominant/Recessive | Myopathy | |
| ALDH5A1 | 6:24,502,592:24,502,593 | c.424_425delAT p.(Ile142HisfsTer3) |
Frameshift | Heterozygous | Not reported on ClinVar (*) | Recessive | Succinic semialdehyde dehydrogenase deficiency | |
| UC-8 | GCNT2 | 6:10,528,925 | c.14G > A p.Trp5Ter |
Stop-gained | Heterozygous | Not reported on ClinVar (**) | Recessive | Cataract |
| DTNA | 18:34,838,756 | c.1184delG p.(Ser395ThrfsTer2) |
Frameshift | Heterozygous | Not reported on ClinVar (**) | Dominant | Left ventricular noncompaction 1 | |
| UC-9 | RYR1 | 19:38,443,612 | c.325C > T p.(Arg109Trp) |
Missense | Heterozygous | Likely pathogenic | Recessive | Congenital myopathy |
| AMPD1 | 1:114,677,465 | c.1373G > A p.(Arg458His) | Missense | Heterozygous | Likely pathogenic | Recessive | Myopathy due to myoadenylate deaminase deficiency | |
| USH2A | 1:215,648,564 | c.14546G > A p.(Trp4849Ter) | Stop_gained | Heterozygous | Not reported on ClinVar (*) | Recessive | Usher syndrome 2A/Retinitis pigmentosa | |
| UC-12 | PAH | 12:102,855,326 | c.517G > T p.(Gln172His) | Missense | Heterozygous | Not reported on ClinVar (*) | Recessive | Phenylketonuria |
| UC-16 | COL12A1 | 6:75,181,213 | c.1892-2A > G | Splice acceptor | Heterozygous | Not reported on ClinVar (*) | Dominant/Recessive | Bethlem myopathy 2 /Ullrich congenital muscular dystrophy 2 |
| ANO5 | 11:22,272,913:22,272,912 | c.2159_2160dupTA p.(Ala721Ter) |
Frameshift | Heterozygous | Not reported on ClinVar (**) | Dominant/Recessive | Gnathodiaphyseal dysplasia/Muscular dystrophy | |
| UC-18 | SLCO1B1 | 12:21,222,355 | c.1738C > T p.(Arg580Ter) |
Stop gained | Heterozygous | Pathogenic | Multiple recessive gene | Digenic hyperbilirubinemia |
| PSEN2 | 1:226,885,652 | c.472delG p.(Val158CysfsTer15) |
Frameshift | Heterozygous | Not reported on ClinVar (**) | Dominant | Alzheimer/Dilated Cardiomyopathy | |
| UC-20 | CPOX | 3:98,585,631 | c.982C > T p.(Arg328Cys) | Missense | Heterozygous | Likely pathogenic | Dominant | Coproporphyria |
| SLC22A5 | 5:132,392,565 | c.1472C > G p.(Ser491Cys) |
Missense | Heterozygous | Pathogenic | Recessive | Systemic primary carnitine deficiency | |
| MVK | 12:109,596,554 | c.1168C > T p.(Gln390Ter) | Stop-gained | Heterozygous | Not reported on ClinVar (**) | Dominant/Recessive | Porokeratosis/Mevalonic aciduria/Hyper-IgD syndrome | |
| GJB2 | 13:20,189,473 | c.109G > A p.(Val37Ile) |
Missense | Heterozygous | Pathogenic | Recessive | Digenic deafness | |
| G6PD | X:154,533,122 | c.961G > A p.(Val321Met) |
Missense | Heterozygous | Pathogenic | Dominant | G6PD deficiency | |
| IGSF3 | 1:116,600,246 | c.1784G > A p.(Trp595Ter) |
Stop-gained | Heterozygous | Pathogenic | Recessive | Lacrimal duct defect | |
| PDE6A | 5:149,933,932 | c.715C > T p.(Gln239Ter) |
Stop-gained | Heterozygous | Not reported on ClinVar (*) | – | Retinitis pigmentosa | |
| UC-21 | ABCA4 | 1:94,008,252 | c.5881G > A p.(Gly1961Arg) |
Missense | Heterozygous | Pathogenic | Recessive | Stargardt disease |
| FANCD2 | 3:10,081,465 | c.3224+1G > T | Spice donor | Heterozygous | Not reported on ClinVar (*) | Recessive | Fanconi anemia | |
| UC-22 | ATP7B | 13:51,949,772 | c.2755C > T p.(Arg919Trp) |
Missense | Heterozygous | Likely pathogenic | Recessive | Wilson syndrome |
| ITGA7 | 12:55,694,633 | c.2259delC p.(Met754Ter) |
Frameshift | Heterozygous | Not reported on ClinVar (**) | Recessive | Congenital muscular dystrophy | |
| UC-23 | CHAT | 10:49,619,786:49,619,785 | c.451_466dupCGACACTTGGTGTCTG p.(Glu156AlafsTer6) |
Frameshift | Heterozygous | Not reported on ClinVar (**) | Recessive | Congenital myasthenic syndrome |
| UC-25 | PIGT | 20:45,416,673 | c.344G > A p.(Trp115Ter) |
Stop-gained | Heterozygous | Not reported on ClinVar (**) | Dominant /Recessive |
Paroxysmal nocturnal hemoglobinuria/Multiple congenital anomalies-hypotonia-seizures syndrome |
| LMF1 | 16:854,610:854,609 | c.1610_1626dupGGAAGAGGATCGGAGCC p.(Tyr543GlyfsTer16) |
Frameshift | Heterozygous | Not reported on ClinVar (**) | Recessive | Lipase deficiency | |
| GJB2 | 13:20,189,347 | c.235delC p.(Leu79CysfsTer3) |
Frameshift | Heterozygous | Pathogenic | Recessive | Digenic deafness | |
| UC-27 | CLPB | 11:72,372,923 | c.736+2T > C | Splice donor | Heterozygous | Not reported on ClinVar (*) | Recessive | 3-methylglutaconic aciduria type 7, cataracts, neurologic involvement and neutropenia |
| UC-28 | ACE | 17:63,494,382 | c.3292C > T p.(Gln1098Ter) | Stop-gained | Heterozygous | Not reported on ClinVar (*) | Recessive | Renal tubular dysgenesis |
| EIF2B5 | 3:184,138,239 | c.758delC p.(Ser253PhefsTer25) |
Frameshift | Heterozygous | Not reported on ClinVar (*) | Recessive | Leukoencephalopathy/Ovarioleukodystrophy | |
| TRMT1 | 17:18,154,745 | c.394_395delAG p.(Ser132Ter) |
Frameshift | Heterozygous | Not reported on ClinVar (*) | Recessive | Intellectual development disorder | |
| UC-29 | EVC2 | 4:5,622,562 | c.2476C > T p.(Arg826Ter) |
Stop-gained | Heterozygous | Pathogenic | Recessive | Ellis-van Creveld syndrome |
| COG4 | 16:70,514,334 | c.544+1G > T | Splice donor | Heterozygous | Not reported on ClinVar (*) | Dominant/Recessive | Saul-Wilson syndrome/Congenital disorders of glycosylation | |
| OFD1 | X:13,751,358 | c.1045G > T p.(Glu349Ter) | Stop-gained | Heterozygous | Not reported on ClinVar (*) | X-linked dominant/recessive | Orofaciodigital syndrome/Joubert syndrome, Simpson-Golabi-Behmel syndrome, retinitis pigmentosa | |
| GIGYF2 | 2:232,844,096:232,844,095 | c.3002_3003insGC p.(Gln1002HisfsTer70) |
Frameshift | Heterozygous | Not reported on ClinVar (**) | – | Parkinson disease | |
| OTOA | 16:21,736,318 | c.2359G > T p.(Glu787Ter) |
Stop-gained | Heterozygous | Not reported on ClinVar (**) | Recessive | Deafness | |
| UC-30 | WNT10B | 12:48,968,025 | c.632G > A p.(Arg211Gln) |
Missense | Heterozygous | Likely pathogenic | Dominant | Selective tooth agenesis |
| GJB2 | 13:20,189,473 | c.3292C > T p.(Gln1098Ter) | Missense | Heterozygous | Pathogenic | Recessive | Digenic deafness |
(*): Not reported on ClinVar, pathogenic.
(**): Not reported on ClinVar, likely pathogenic.