ID   RCPFi007-A
AC   CVCL_UF40
SY   LCA-FiPS4F1; CIPFi001-A
DR   hPSCreg; RCPFi007-A
DR   Wikidata; Q93453603
RX   PubMed=30366342;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Formulario%2520de%2520deposito%2520LCA-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; 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: 10-04-25; Version: 10
//
RX   PubMed=30366342; DOI=10.1016/j.scr.2018.10.012;
RA   Lukovic, Dunja
RA   Artero Castro, Ana
RA   Leon, Marian
RA   del Buey Furio, Veronica
RA   Corton, Marta
RA   Ayuso, Carmen
RA   Erceg, Slaven
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).
//