Cellosaurus cell line IBMS-iPSC-036-01 (CVCL

Cross-references
Cell line name	IBMS-iPSC-036-01
Synonyms	IBMSi010-A
Accession	CVCL_UD67
Resource Identification Initiative	To cite this cell line use: IBMS-iPSC-036-01 (RRID:CVCL_UD67)
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; HGNC:4284; GJB2; Simple; p.Val37Ile (c.109G>A); ClinVar=VCV000017023; Zygosity=Heterozygous (PubMed=30316039).
Disease	Deafness, autosomal recessive 1A (NCIt: C129022) Autosomal recessive non-syndromic sensorineural deafness type DFNB (ORDO: Orphanet_90636)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	34Y
Category	Induced pluripotent stem cell
Publications	PubMed=30316039; DOI=10.1016/j.scr.2018.10.002 Yen-Hui Chan, Yen-Fu Cheng, You-Tzung Chen, Cheng-Yen Huang, Chin-Hsien Lin, Chin-Ju Hu, Ying-Chang Lu, Chen-Chi Wu, Chuan-Jen Hsu; Generation of induced pluripotent stem cells from a patient with hearing loss carrying GJB2 p.V37I mutation. Stem Cell Res. 33:51-55(2018)
Cell line databases/resources	hPSCreg; IBMSi010-A
Encyclopedic resources	Wikidata; Q94313042
Entry history
Entry creation	13-Nov-2018
Last entry update	19-Dec-2024
Version number	8