ID   BIOi002-A
AC   CVCL_A2YJ
SY   JWQ-C3-P6
DR   BioSamples; SAMEA7851595
DR   hPSCreg; BIOi002-A
DR   Wikidata; Q105506485
RX   PubMed=33752025;
CC   From: Beijing Institute of Ophthalmology; Beijing; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 8140; OPA1; Simple; p.Val903Glyfs*3 (c.2708_2711delTTAG); ClinVar=VCV000005082; Zygosity=Heterozygous (PubMed=33752025).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=33752025
ST   Amelogenin: X,Y
ST   CSF1PO: 12
ST   D12S391: 19,22
ST   D13S317: 11,14
ST   D16S539: 11,12
ST   D18S51: 13,14
ST   D19S433: 14.2,15.2
ST   D1S1656: 14
ST   D21S11: 30
ST   D2S1338: 20,23
ST   D2S441: 10,11
ST   D3S1358: 15,17
ST   D5S818: 10,12
ST   D6S1043: 13,14
ST   D7S820: 10,10.3
ST   D8S1179: 10,13
ST   FGA: 23,24
ST   Penta D: 11,12
ST   Penta E: 9,15
ST   TH01: 7,9
ST   TPOX: 8,11
ST   vWA: 17,18
DI   NCIt; C169000; Optic atrophy 1
DI   ORDO; Orphanet_98673; Autosomal dominant optic atrophy, classic form
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 4
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RX   PubMed=33752025; DOI=10.1016/j.scr.2021.102278;
RA   Zhang X.-H., Xie Y., Xu K., Li Y.;
RT   "Generation of an induced pluripotent stem cell line BIOi002-A from a
RT   patient with autosomal dominant optic atrophy.";
RL   Stem Cell Res. 53:102278-102278(2021).
//