ID   CPGHi003-A
AC   CVCL_A7IG
SY   AIFM1-MSW
DR   hPSCreg; CPGHi003-A
DR   Wikidata; Q107114710
RX   PubMed=34088005;
CC   From: Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 8768; AIFM1; Simple; p.Arg422Gln (c.1265G>A); ClinVar=VCV000162480; Zygosity=Hemizygous (PubMed=34088005).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C180843; X-linked deafness-5, with peripheral neuropathy
DI   ORDO; Orphanet_90625; X-linked non-syndromic sensorineural deafness type DFN
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
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RX   PubMed=34088005; DOI=10.1016/j.scr.2021.102376;
RA   Li J., Wu K.-W., Guan J., Wang Q.-J., Wang H.-Y.;
RT   "Generation of a human induced pluripotent stem cell line (CPGHi003-A)
RT   from an auditory neuropathy patient with AIFM1 p.R422Q mutation.";
RL   Stem Cell Res. 53:102376-102376(2021).
//