ID   IISHDOi006-A
AC   CVCL_XI73
SY   DOA2259-FiPS4F-8
DR   hPSCreg; IISHDOi006-A
DR   Wikidata; Q94315438
RX   PubMed=31509793;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/182/Caracteristicas%20-%20Solicitud%20de%20deposito-DOA2259-FiPS4F-8-v2.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; 118; ACO2; Simple; p.Glu667Lys (c.1999G>A); ClinVar=VCV001444087; Zygosity=Heterozygous (PubMed=31509793).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84577; Autosomal dominant optic atrophy
DI   ORDO; Orphanet_98672; Autosomal dominant optic atrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=31509793; DOI=10.1016/j.scr.2019.101566;
RA   Cerrada V., Garcia-Lopez M., Moreno-Izquierdo A., Villaverde C.,
RA   Zurita O., Martin-Merida M.I., Arenas J., Ayuso C., Gallardo M.E.;
RT   "Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in
RT   the ACO2 gene: c.1999G>A; p.Glu667Lys.";
RL   Stem Cell Res. 40:101566-101566(2019).
//