ID   RCPFi007-A
AC   CVCL_UF40
SY   LCA-FiPS4F1; CIPFi001-A
DR   hPSCreg; RCPFi007-A
DR   Wikidata; Q93453603
RX   PubMed=30366342;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/171/Caracteristicas%20-%20Formulario%20de%20deposito%20LCA-FiPS4F1.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Principe Felipe Centro de Investigacion; Valencia; Spain.
CC   Sequence variation: Mutation; HGNC; 359; AIPL1; Simple; p.Cys89Arg (c.265T>C); ClinVar=VCV000574505; Zygosity=Homozygous (PubMed=30366342).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129075; Leber congenital amaurosis
DI   ORDO; Orphanet_65; Leber congenital amaurosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   31Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 29-06-23; Version: 8
//
RX   PubMed=30366342; DOI=10.1016/j.scr.2018.10.012;
RA   Lukovic D., Artero Castro A., Leon M., del Buey Furio V., Corton M.,
RA   Ayuso C., Erceg S.;
RT   "Generation of a human iPSC line from a patient with Leber congenital
RT   amaurosis caused by mutation in AIPL1.";
RL   Stem Cell Res. 33:151-155(2018).
//