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Cellosaurus KMUGMCi003-A (CVCL_C1LM)

[Text version]
Cell line name KMUGMCi003-A
Synonyms KMUGMCi003ERCC2; KN610
Accession CVCL_C1LM
Resource Identification Initiative To cite this cell line use: KMUGMCi003-A (RRID:CVCL_C1LM)
Comments From: Kanazawa Medical University; Uchinada; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3434; ERCC2; Simple; p.Arg26Pro (c.77G>C); Zygosity=Heterozygous (PubMed=35944311).
  • Mutation; HGNC; 3434; ERCC2; Simple; p.Gly47Arg (c.139G>A); ClinVar=VCV001176084; Zygosity=Heterozygous (PubMed=35944311).
Disease Trichothiodystrophy 1, photosensitive (NCIt: C156433)
Trichothiodystrophy (ORDO: Orphanet_33364)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 10M
Category Induced pluripotent stem cell

PubMed=35944311; DOI=10.1016/j.scr.2022.102885
Ura H., Togi S., Hatanaka H., Niida Y.
Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (TTD1) bearing compound heterozygous missense mutations in the ERCC2 gene.
Stem Cell Res. 64:102885-102885(2022)

Cell line databases/resources hPSCreg; KMUGMCi003-A
Biological sample resources BioSamples; SAMEA110211493
Encyclopedic resources Wikidata; Q114311824
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4