Cellosaurus logo
expasy logo

Cellosaurus INMi001-A-1 (CVCL_YR32)

[Text version]
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; 12601; USH2A; Simple_corrected; p.Cys759Phe (c.2276G>T); ClinVar=VCV000002356; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=31909088).
  • Mutation; 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)

Cross-references
Encyclopedic resources Wikidata; Q94317986
Entry history
Entry creation12-Mar-2020
Last entry update05-Oct-2023
Version number7