ID   IBMS-iPSC-036-01
AC   CVCL_UD67
SY   IBMSi010-A
DR   hPSCreg; IBMSi010-A
DR   Wikidata; Q94313042
RX   PubMed=30316039;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; 4284; GJB2; Simple; p.Val37Ile (c.109G>A); ClinVar=VCV000017023; Zygosity=Heterozygous (PubMed=30316039).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129022; Deafness, autosomal recessive 1A
DI   ORDO; Orphanet_90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 29-06-23; Version: 7
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RX   PubMed=30316039; DOI=10.1016/j.scr.2018.10.002;
RA   Chan Y.-H., Cheng Y.-F., Chen Y.-T., Huang C.-Y., Lin C.-H., Hu C.-J.,
RA   Lu Y.-C., Wu C.-C., Hsu C.-J.;
RT   "Generation of induced pluripotent stem cells from a patient with
RT   hearing loss carrying GJB2 p.V37I mutation.";
RL   Stem Cell Res. 33:51-55(2018).
//