Cellosaurus cell line IBMS-iPSC-073-01 (CVCL

Cross-references
Cell line name	IBMS-iPSC-073-01
Synonyms	IBMSi027-A
Accession	CVCL_C7TR
Resource Identification Initiative	To cite this cell line use: IBMS-iPSC-073-01 (RRID:CVCL_C7TR)
Comments	From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan. Population: Chinese; Taiwan. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; 12762; WFS1; Simple; p.Ala684Val (c.2051C>T); ClinVar=VCV000030556; Zygosity=Heterozygous (PubMed=36933359).
Disease	Wolfram syndrome (NCIt: C35133) Wolfram syndrome (ORDO: Orphanet_3463)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	5Y
Category	Induced pluripotent stem cell
Publications	PubMed=36933359; DOI=10.1016/j.scr.2023.103068 Chan Y.-H., Tsai C.-Y., Ho C.-H., Lu Y.-C., Lin P.-H., Chen T.-C., Chen Y.-T., Huang C.-Y., Liu T.-C., Hsu C.-J., Wu C.-C. Generation of induced pluripotent stem cells (IBMSi027-A) from a patient with hearing loss carrying WFS1 c.2051C > T (p.Ala684Val) variant. Stem Cell Res. 69:103068-103068(2023)
Cell line databases/resources	hPSCreg; IBMSi027-A
Biological sample resources	BioSamples; SAMEA112445290
Encyclopedic resources	Wikidata; Q117704513
Entry history
Entry creation	21-Mar-2023
Last entry update	29-Jun-2023
Version number	2