ID   KMUGMCi003-A
AC   CVCL_C1LM
SY   KMUGMCi003ERCC2; KN610
DR   BioSamples; SAMEA110211493
DR   hPSCreg; KMUGMCi003-A
DR   Wikidata; Q114311824
RX   PubMed=35944311;
CC   From: Kanazawa Medical University; Uchinada; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Arg26Pro (c.77G>C); Zygosity=Heterozygous (PubMed=35944311).
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Gly47Arg (c.139G>A); ClinVar=VCV001176084; Zygosity=Heterozygous (PubMed=35944311).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C156433; Trichothiodystrophy 1, photosensitive
DI   ORDO; Orphanet_33364; Trichothiodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10M
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35944311; DOI=10.1016/j.scr.2022.102885;
RA   Ura H., Togi S., Hatanaka H., Niida Y.;
RT   "Establishment of a human induced pluripotent stem cell line,
RT   KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing
RT   compound heterozygous missense mutations in the ERCC2 gene.";
RL   Stem Cell Res. 64:102885-102885(2022).
//