Cellosaurus cell line INMi003-A (CVCL

Cross-references
Cell line name	INMi003-A
Synonyms	CRX-CRD-iPSC
Accession	CVCL_WR01
Resource Identification Initiative	To cite this cell line use: INMi003-A (RRID:CVCL_WR01)
Comments	From: Institute for Neurosciences of Montpellier; Montpellier; France. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2383; CRX; Simple; p.Arg41Trp (c.121C>T); ClinVar=VCV000007418; Zygosity=Heterozygous (PubMed=31203166).
Disease	Cone-rod dystrophy 2 (NCIt: C162399) Cone rod dystrophy (ORDO: Orphanet_1872)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	53Y
Category	Induced pluripotent stem cell
Publications	PubMed=31203166; DOI=10.1016/j.scr.2019.101478 Nejla Erkilic, Carla Sanjurjo-Soriano, Michalitsa Diakatou, Gael Manes, Gregor Dubois, Christian Paul Hamel, Isabelle Meunier, Vasiliki Kalatzis; Generation of a human iPSC line, INMi003-A, with a missense mutation in CRX associated with autosomal dominant cone-rod dystrophy. Stem Cell Res. 38:101478-101478(2019)
Cell line databases/resources	hPSCreg; INMi003-A
Encyclopedic resources	Wikidata; Q94317998
Entry history
Entry creation	05-Jul-2019
Last entry update	19-Dec-2024
Version number	10