Cellosaurus cell line INMi005-A (CVCL

Cross-references
Cell line name	INMi005-A
Synonyms	USH2A-RP-2-iPSC
Accession	CVCL_B7MC
Resource Identification Initiative	To cite this cell line use: INMi005-A (RRID:CVCL_B7MC)
Comments	From: Institute for Neurosciences of Montpellier; Montpellier; France. Population: Caucasian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Cys759Phe (c.2276G>T); ClinVar=VCV000002356; Zygosity=Heterozygous (PubMed=35248879). Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Leu2451Pro (c.7352T>C); Zygosity=Heterozygous (PubMed=35248879).
Disease	Retinitis pigmentosa (NCIt: C85045) Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	38Y
Category	Induced pluripotent stem cell
Publications	PubMed=35248879; DOI=10.1016/j.scr.2022.102738 Carla Sanjurjo-Soriano, Nejla Erkilic, Christel Vache, Gregor Dubois, Anne-Francoise Roux, Isabelle Meunier, Vasiliki Kalatzis; Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosa. Stem Cell Res. 60:102738-102738(2022)
Cell line databases/resources	hPSCreg; INMi005-A
Encyclopedic resources	Wikidata; Q112929865
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5