ID   INMi003-A
AC   CVCL_WR01
SY   CRX-CRD-iPSC
DR   hPSCreg; INMi003-A
DR   Wikidata; Q94317998
RX   PubMed=31203166;
CC   From: Institute for Neurosciences of Montpellier; Montpellier; France.
CC   Sequence variation: Mutation; HGNC; 2383; CRX; Simple; p.Arg41Trp (c.121C>T); ClinVar=VCV000007418; Zygosity=Heterozygous (PubMed=31203166).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C162399; Cone-rod dystrophy 2
DI   ORDO; Orphanet_1872; Cone rod dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=31203166; DOI=10.1016/j.scr.2019.101478;
RA   Erkilic N., Sanjurjo-Soriano C., Diakatou M., Manes G., Dubois G.,
RA   Hamel C.P., Meunier I., Kalatzis V.;
RT   "Generation of a human iPSC line, INMi003-A, with a missense mutation
RT   in CRX associated with autosomal dominant cone-rod dystrophy.";
RL   Stem Cell Res. 38:101478-101478(2019).
//