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Cellosaurus KMUGMCi005-A (CVCL_C3QT)

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Cell line name KMUGMCi005-A
Synonyms KMUGMCi005TMC8; KN627
Accession CVCL_C3QT
Resource Identification Initiative To cite this cell line use: KMUGMCi005-A (RRID:CVCL_C3QT)
Comments From: Kanazawa Medical University; Uchinada; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:20474; TMC8; Simple; p.Gln51Profs*42 (c.298+1G>A); dbSNP=rs1381151589; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=36170758).
Disease Epidermodysplasia verruciformis (NCIt: C126877)
Epidermodysplasia verruciformis (ORDO: Orphanet_302)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 64Y
Category Induced pluripotent stem cell
Publications

PubMed=36170758; DOI=10.1016/j.scr.2022.102926
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida;
Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 gene.
Stem Cell Res. 64:102926-102926(2022)

Cross-references
Cell line databases/resources hPSCreg; KMUGMCi005-A
Biological sample resources BioSamples; SAMEA111327963
Encyclopedic resources Wikidata; Q116049622
Entry history
Entry creation15-Dec-2022
Last entry update19-Dec-2024
Version number4