Table 2. Genes found to be mutated in exomes of 15 CB iPSC lines.
iPSC line | Chrom | Position | Ref | Alt | Codon | Substitution | Region | SNP Type | Gene Name | COSMIC gene |
MK4 | chr2 | 160086962 | G | A | ATG-ATa | M1569I | CDS | NS | TANC1 | No |
MK4 | chr1 | 237713868 | C | A | CGC-aGC | R1029S | CDS | NS | RYR2 | No |
MK4 | chr3 | 118620274 | C | A | – | 3′UTR | IGSF11 | No | ||
MK5 | chr6 | 4130793 | T | C | GAA-GgA | E75G | CDS | NS | ECI2 | No |
MK5 | chr20 | 61476966 | G | T | – | 3′UTR | DPH3P1 | No | ||
MK5 | chr17 | 39305800 | T | A | AGC-tGC | S74C | CDS | NS | KRTAP4-5 | No |
MK7 | chr1 | 205819074 | A | T | TTC-aTC | F43I | CDS | NS | PM20D1 | No |
MK7 | chr12 | 48866491 | C | T | ACG-AtG | T15M | CDS | NS | ANP32D | No |
MK8 | chr6 | 159054862 | A | T | – | 3′UTR | TMEM181 | No | ||
MK8 | chr10 | 96022426 | C | T | AAC-AAt | N1330N | CDS | S | PLCE1 | No |
MK9 | chr9 | 23691717 | G | T | – | 3′UTR | ELAVL2 | No | ||
MK9 | chr19 | 4910814 | C | T | – | 5′UTR | UHRF1 | No | ||
MK9 | chr6 | 105548487 | A | G | – | Downstream | BVES | No | ||
MK9 | chr15 | 43890440 | G | A | CGT-CaT | R309H | CDS | NS | CKMT1B | No |
OS1 | chr12 | 53879244 | G | A | TAC-TAt | Y279Y | CDS | S | MAP3K12 | No |
OS1 | chr2 | 202010131 | C | T | CTT-tTT | L117F | CDS | NS | CFLAR | No |
OS1 | chr19 | 12662311 | G | C | – | 5′UTR | ZNF564 | No | ||
OS3 | chr5 | 156899405 | C | T | CGT-tGT | R280C | CDS | NS | NIPAL4 | No |
OS3 | chr14 | 24424340 | G | A | ACG-ACa | T57T | CDS | S | DHRS4 | No |
OS3 | chr17 | 39346592 | ACCT | A | 455_457delCCT | T152_C153>S | CDS | NS | KRTAP9-1 | Yes |
OS3 | chr19 | 5838781 | C | T | – | 5′UTR | FUT6 | No | ||
OS3 | chr19 | 58944373 | C | G | – | 3′UTR | ZNF132 | No | ||
OS5 | chr4 | 154216795 | G | A | GTC-aTC | V373I | CDS | NS | TRIM2 | No |
OS5 | chr12 | 123875282 | G | A | GAA-aAA | E80K | CDS | NS | SETD8 | No |
OS6 | chr3 | 101546808 | A | G | – | 3′UTR | NXPE3 | No | ||
Z1 | chr6 | 51482793 | G | T | – | 3′UTR | PKHD1 | No | ||
Z1 | chr7 | 92238910 | G | A | – | 3′UTR | CDK6 | No | ||
Z2 | chr4 | 140811131 | G | T | CAA-aAA | Q26K | CDS | NS | MAML3 | No |
Z5 | chr19 | 7992965 | G | T | GTC-GTa | V375V | CDS | S | TIMM44 | No |
Z5 | chr19 | 30503231 | C | A | CGC-CGa | R366R | CDS | S | C19orf2 | No |
Z6 | chr1 | 6314975 | C | T | – | 5′UTR | GPR153 | No | ||
Z6 | chr12 | 70047490 | G | A | – | 3′UTR | BEST3 | No | ||
Z6 | chr12 | 131438772 | G | T | – | 5′UTR | GPR133 | No | ||
Z7 | chr16 | 683298 | G | A | CCG-CCa | P296P | CDS | S | WFIKKN1 | No |
The full details of each SNV including reads of SNV and wildtype alleles are in Table S1.
MK: iPSC lines generated with OCT4, SOX2, MYC and KLF4; OS: iPSC lines generated with OCT4 and SOX2; Z: iPSC lines generated with OCT4, SOX2 and ZSCAN4.
CDS: coding sequence; UTR: untranslated region; Downstream: SNV is at downstream of 5′UTR; S: synonymous coding mutation; NS: nonsynonymous coding mutation.