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Cellosaurus INMi003-A (CVCL_WR01)

[Text version]
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; 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
Erkilic N., Sanjurjo-Soriano C., Diakatou M., Manes G., Dubois G., Hamel C.P., Meunier I., Kalatzis V.
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)

Cross-references
Cell line databases/resources hPSCreg; INMi003-A
Encyclopedic resources Wikidata; Q94317998
Entry history
Entry creation05-Jul-2019
Last entry update29-Jun-2023
Version number9