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Cellosaurus INMi004-A (CVCL_WR02)

[Text version]

Cell line name INMi004-A
Synonyms CRX-LCA-iPSC
Accession CVCL_WR02
Resource Identification Initiative To cite this cell line use: INMi004-A (RRID:CVCL_WR02)
Comments From: Institute for Neurosciences of Montpellier; Montpellier; France.
Derived from sampling site: Skin; dermis.
Sequence variations Heterozygous for CRX p.Pro232Argfs*139 (c.695delC) (PubMed=31247521).
Disease Leber congenital amaurosis (NCIt: C129075)
Leber congenital amaurosis (ORDO: Orphanet_65)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6Y
Category Induced pluripotent stem cell

PubMed=31247521; DOI=10.1016/j.scr.2019.101476
Erkilic N., Sanjurjo-Soriano C., Manes G., Dubois G., Hamel C.P., Meunier I., Kalatzis V.
Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis.
Stem Cell Res. 38:101476-101476(2019)

Cell line databases/resources hPSCreg; INMi004-A
Other Wikidata; Q94318004
Entry history
Entry creation05-Jul-2019
Last entry update02-Jul-2020
Version number4