ID   KMUGMCi005-A
AC   CVCL_C3QT
SY   KMUGMCi005TMC8; KN627
DR   BioSamples; SAMEA111327963
DR   hPSCreg; KMUGMCi005-A
DR   Wikidata; Q116049622
RX   PubMed=36170758;
CC   From: Kanazawa Medical University; Uchinada; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 20474; TMC8; Simple; p.Gln51Profs*42 (c.298+1G>A); dbSNP=rs1381151589; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=36170758).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126877; Epidermodysplasia verruciformis
DI   ORDO; Orphanet_302; Epidermodysplasia verruciformis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   64Y
CA   Induced pluripotent stem cell
DT   Created: 15-12-22; Last updated: 29-06-23; Version: 3
//
RX   PubMed=36170758; DOI=10.1016/j.scr.2022.102926;
RA   Ura H., Togi S., Hatanaka H., Niida Y.;
RT   "Establishment of a human induced pluripotent stem cell line,
RT   KMUGMCi005-A, from a patient with epidermodysplasia verruciformis (EV)
RT   bearing homozygous splicing donor site mutation in the TMC8 gene.";
RL   Stem Cell Res. 64:102926-102926(2022).
//