Cellosaurus cell line INMi001-A-1 (CVCL

Cross-references
Cell line name	INMi001-A-1
Synonyms	USH2A-RP-iPSC clone MS3F7
Accession	CVCL_YR32
Resource Identification Initiative	To cite this cell line use: INMi001-A-1 (RRID:CVCL_YR32)
Comments	From: Institute for Neurosciences of Montpellier; Montpellier; France. Population: Caucasian. Omics: Deep exome analysis. 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_corrected; p.Cys759Phe (c.2276G>T); ClinVar=VCV000002356; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=31909088). Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Glu767Serfs*21 (c.2299delG); ClinVar=VCV000002351; Zygosity=Heterozygous (PubMed=31909088).
Disease	Retinitis pigmentosa (NCIt: C85045) Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_UJ75 (INMi001-A)
Sex of cell	Female
Age at sampling	70Y
Category	Induced pluripotent stem cell
Publications	PubMed=31909088; DOI=10.1016/j.omtm.2019.11.016; PMCID=PMC6938853 Sanjurjo-Soriano C., Erkilic N., Baux D., Mamaeva D., Hamel C.P., Meunier I., Roux A.-F., Kalatzis V. Genome editing in patient iPSCs corrects the most prevalent USH2A mutations and reveals intriguing mutant mRNA expression profiles. Mol. Ther. Methods Clin. Dev. 17:156-173(2020)
Encyclopedic resources	Wikidata; Q94317986
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	8