ID   UMi030-A
AC   CVCL_A5GK
SY   UMNSDF253-100
DR   hPSCreg; UMi030-A
DR   Wikidata; Q107117327
RX   PubMed=34883447;
CC   From: Miller School of Medicine, University of Miami; Miami; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Val37Ile (c.109G>A); ClinVar=VCV000017023; Zygosity=Homozygous (PubMed=34883447).
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: 20-05-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=34883447; DOI=10.1016/j.scr.2021.102599;
RA   Colbert, Brett M.
RA   Gosstola, Nicholas C.
RA   Dykxhoorn, Derek M.
RA   Liu, Xue-Zhong
RT   "Generation of hiPSC line UMi030-A from an individual with the hearing
RT   loss-related GJB2 mutation c.109G > A.";
RL   Stem Cell Res. 58:102599-102599(2022).
//