ID   MMCi001-A
AC   CVCL_YM52
SY   MMCiPSC-001-A; MMC-iPSC-052B-02
DR   BioSamples; SAMEA6428920
DR   hPSCreg; MMCi001-A
DR   SKIP; SKIP005600
DR   Wikidata; Q95990331
RX   PubMed=31896484;
CC   From: Mackay Medical College; New Taipei City; Taiwan.
CC   Sequence variation: Mutation; HGNC; 4284; GJB2; Simple; p.Val37Ile (c.109G>A); ClinVar=VCV000017023; Zygosity=Homozygous (PubMed=31896484).
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   4Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=31896484; DOI=10.1016/j.scr.2019.101692;
RA   Lu H.-E., Tsai C.-L., Chiu I.-M., Pan Y.-L., Lin Y.-F., Lin H.-C.,
RA   Hsu Y.-C.;
RT   "Generation of induced pluripotent stem cells MMCi001-A from a
RT   Taiwanese hearing loss patient carrying GJB2 pV37I mutation.";
RL   Stem Cell Res. 42:101692-101692(2020).
//