ID   TVGHi007-A
AC   CVCL_YE47
SY   DE5205
DR   hPSCreg; TVGHi007-A
DR   SKIP; SKIP005794
DR   Wikidata; Q98133702
RX   PubMed=32388442;
CC   From: Taipei Veterans General Hospital; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Leu79Cysfs*3 (c.235delC); ClinVar=VCV000017014; Zygosity=Homozygous (PubMed=32388442).
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   Male
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 8
//
RX   PubMed=32388442; DOI=10.1016/j.scr.2020.101795;
RA   Huang C.-Y., Tsai Y.-H., Tsai Y.-C., Lu Y.-C., Chan Y.-H., Hsu C.-J.,
RA   Chiou S.-H., Wu C.-C., Cheng Y.-F.;
RT   "Establishment of an induced pluripotent stem cell (iPSC) line from a
RT   7-year-old male patient with profound hearing loss carrying c.235delC
RT   in GJB2 gene.";
RL   Stem Cell Res. 45:101795-101795(2020).
//