ID   JUFMDOi005-A
AC   CVCL_YM41
SY   GP005
DR   hPSCreg; JUFMDOi005-A
DR   Wikidata; Q94332581
RX   PubMed=32745712;
CC   From: Department of Otorhinolaryngology, Juntendo University Faculty of Medicine; Tokyo; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Leu79Cysfs*3 (c.235delC); ClinVar=VCV000017014; Zygosity=Homozygous (PubMed=32745712).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=32745712
ST   Amelogenin: X,Y
ST   CSF1PO: 9,12
ST   D13S317: 11,14
ST   D16S539: 10,11
ST   D18S51: 13,15
ST   D21S11: 29,30
ST   D3S1358: 16,17
ST   D5S818: 10,11
ST   D7S820: 11,13
ST   D8S1179: 12,14
ST   FGA: 22,23
ST   Penta D: 10,11
ST   Penta E: 10,11
ST   TH01: 9
ST   TPOX: 8
ST   vWA: 16
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   6Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=32745712; DOI=10.1016/j.scr.2020.101910;
RA   Fukunaga I., Shirai K., Oe Y., Danzaki K., Ohta S., Shiga T., Chen C.,
RA   Ikeda K., Akamatsu W., Kawano A., Kamiya K.;
RT   "Generation of two induced pluripotent stem cell lines from PBMCs of
RT   siblings carrying c.235delC mutation in the GJB2 gene associated with
RT   sensorineural hearing loss.";
RL   Stem Cell Res. 47:101910-101910(2020).
//