ID   IBMS-iPSC-073-01
AC   CVCL_C7TR
SY   IBMSi027-A
DR   BioSamples; SAMEA112445290
DR   hPSCreg; IBMSi027-A
DR   Wikidata; Q117704513
RX   PubMed=36933359;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; 12762; WFS1; Simple; p.Ala684Val (c.2051C>T); ClinVar=VCV000030556; Zygosity=Heterozygous (PubMed=36933359).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C35133; Wolfram syndrome
DI   ORDO; Orphanet_3463; Wolfram syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//
RX   PubMed=36933359; DOI=10.1016/j.scr.2023.103068;
RA   Chan Y.-H., Tsai C.-Y., Ho C.-H., Lu Y.-C., Lin P.-H., Chen T.-C.,
RA   Chen Y.-T., Huang C.-Y., Liu T.-C., Hsu C.-J., Wu C.-C.;
RT   "Generation of induced pluripotent stem cells (IBMSi027-A) from a
RT   patient with hearing loss carrying WFS1 c.2051C > T (p.Ala684Val)
RT   variant.";
RL   Stem Cell Res. 69:103068-103068(2023).
//