ID   IBMS-iPSC-074-01
AC   CVCL_C0HC
SY   IBMSi026-A
DR   hPSCreg; IBMSi026-A
DR   Wikidata; Q112929832
RX   PubMed=36075118;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; 8140; OPA1; Simple; p.Cys490Arg (c.1468T>C); Zygosity=Heterozygous (PubMed=36075118).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C169000; Optic atrophy 1
DI   ORDO; Orphanet_98673; Autosomal dominant optic atrophy, classic form
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 5
//
RX   PubMed=36075118; DOI=10.1016/j.scr.2022.102903;
RA   Chan Y.-H., Ho C.-H., Tsai C.-Y., Lu Y.-C., Lin P.-H., Chen T.-C.,
RA   Chen Y.-T., Huang C.-Y., Liu T.-C., Hsu C.-J., Wu C.-C.;
RT   "Generation of induced pluripotent stem cells from a patient with
RT   hearing loss carrying OPA1 c.1468T>C (p.Cys490Arg) variant.";
RL   Stem Cell Res. 64:102903-102903(2022).
//