Cellosaurus cell line CPGHi003-A (CVCL

Cross-references
Cell line name	CPGHi003-A
Synonyms	AIFM1-MSW
Accession	CVCL_A7IG
Resource Identification Initiative	To cite this cell line use: CPGHi003-A (RRID:CVCL_A7IG)
Comments	From: Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital; Beijing; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:8768; AIFM1; Simple; p.Arg422Gln (c.1265G>A); ClinVar=VCV000162480; Zygosity=Hemizygous (PubMed=34088005).
Disease	X-linked deafness-5, with peripheral neuropathy (NCIt: C180843) X-linked non-syndromic sensorineural deafness type DFN (ORDO: Orphanet_90625)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	49Y
Category	Induced pluripotent stem cell
Publications	PubMed=34088005; DOI=10.1016/j.scr.2021.102376 Li J., Wu K.-W., Guan J., Wang Q.-J., Wang H.-Y. Generation of a human induced pluripotent stem cell line (CPGHi003-A) from an auditory neuropathy patient with AIFM1 p.R422Q mutation. Stem Cell Res. 53:102376-102376(2021)
Cell line databases/resources	hPSCreg; CPGHi003-A
Encyclopedic resources	Wikidata; Q107114710
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6