ID   SDQLCHi035-A
AC   CVCL_A4XR
DR   hPSCreg; SDQLCHi035-A
DR   Wikidata; Q107116889
RX   PubMed=33517119;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 4284; GJB2; Simple; p.Leu79Cysfs*3 (c.235delC); ClinVar=VCV000017014; Zygosity=Heterozygous (PubMed=33517119).
CC   Sequence variation: Mutation; HGNC; 4284; GJB2; Simple; p.His100Argfs*14 (c.299_300delAT); ClinVar=VCV000044736; Zygosity=Heterozygous (PubMed=33517119).
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   2Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33517119; DOI=10.1016/j.scr.2021.102188;
RA   Yang X.-M., Liu N., Mu H., Lv Y.-Q., Zhang H.-Y., Li Y., Guan J.-Y.,
RA   Gai Z.-T., Liu Y.;
RT   "Reprogramming of human peripheral blood mononuclear cell (PBMC) from
RT   a patient suffering from hearing loss into iPSC line (SDQLCHi035-A)
RT   maintaining compound heterozygous variations in GJB2 gene.";
RL   Stem Cell Res. 51:102188-102188(2021).
//