ID   IISHDOi003-A
AC   CVCL_QX87
SY   OAS545-FiPS4F1
DR   hPSCreg; IISHDOi003-A
DR   Wikidata; Q54897447
RX   PubMed=29034899;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/114/Caracteristicas%20-%20Documento%20Deposito%20Linea%20OAS545-FiPS4F1-v3.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Instituto de Investigacion Sanitaria Hospital 12 de Octubre; Madrid; Spain.
CC   Sequence variation: Mutation; HGNC; 8140; OPA1; Simple; p.Ser545Arg (c.1635C>A); ClinVar=VCV000095712; Zygosity=Heterozygous (PubMed=29034899).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 29-06-23; Version: 12
//
RX   PubMed=29034899; DOI=10.1016/j.scr.2017.08.017;
RA   Zurita-Diaz F., Galera-Monge T., Moreno-Izquierdo A., Corton M.,
RA   Ayuso C., Garesse R., Gallardo M.E.;
RT   "Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the
RT   mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg.";
RL   Stem Cell Res. 24:81-84(2017).
//