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Cellosaurus INMi001-A (CVCL_UJ75)

[Text version]

Cell line name INMi001-A
Synonyms USH2A-RP-iPSC
Accession CVCL_UJ75
Resource Identification Initiative To cite this cell line use: INMi001-A (RRID:CVCL_UJ75)
Comments From: Institute for Neurosciences of Montpellier; Montpellier; France.
Population: Caucasian.
Omics: Deep exome analysis.
Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 12601; USH2A; Simple; p.Cys759Phe (c.2276G>T); ClinVar=VCV000002356; Zygosity=Heterozygous (PubMed=30453153).
  • Mutation; HGNC; 12601; USH2A; Simple; p.Glu767Serfs*21 (c.2299delG); ClinVar=VCV000002351; Zygosity=Heterozygous (PubMed=30453153).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_YR32 (INMi001-A-1 )
Sex of cell Female
Age at sampling 70Y
Category Induced pluripotent stem cell
Publications

PubMed=30453153; DOI=10.1016/j.scr.2018.11.004
Sanjurjo-Soriano C., Erkilic N., Manes G., Dubois G., Hamel C.P., Meunier I., Kalatzis V.
Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa.
Stem Cell Res. 33:228-232(2018)

PubMed=31909088; DOI=10.1016/j.omtm.2019.11.016
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
Cell line databases/resources hPSCreg; INMi001-A
Encyclopedic resources Wikidata; Q94317981
Entry history
Entry creation25-Feb-2019
Last entry update17-Mar-2022
Version number6