ID   INMi004-A
AC   CVCL_WR02
SY   CRX-LCA-iPSC
DR   hPSCreg; INMi004-A
DR   Wikidata; Q94318004
RX   PubMed=31247521;
CC   From: Institute for Neurosciences of Montpellier; Montpellier; France.
CC   Sequence variation: Mutation; HGNC; 2383; CRX; Simple; p.Pro232Argfs*139 (c.695delC); ClinVar=VCV000191298; Zygosity=Heterozygous (PubMed=31247521).
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   Male
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=31247521; DOI=10.1016/j.scr.2019.101476;
RA   Erkilic N., Sanjurjo-Soriano C., Manes G., Dubois G., Hamel C.P.,
RA   Meunier I., Kalatzis V.;
RT   "Generation of a human iPSC line, INMi004-A, with a point mutation in
RT   CRX associated with autosomal dominant Leber congenital amaurosis.";
RL   Stem Cell Res. 38:101476-101476(2019).
//