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Cellosaurus INMi002-A (CVCL_UJ76)

[Text version]
Cell line name INMi002-A
Synonyms USH2A-USH-iPSC
Accession CVCL_UJ76
Resource Identification Initiative To cite this cell line use: INMi002-A (RRID:CVCL_UJ76)
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; p.Glu767Serfs*21 (c.2299delG); ClinVar=VCV000002351; Zygosity=Homozygous (PubMed=30468996).
Disease Usher syndrome type 2 (NCIt: C126328)
Usher syndrome type 2 (ORDO: Orphanet_231178)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_YR33 (INMi002-A-1)
Sex of cell Female
Age at sampling 59Y
Category Induced pluripotent stem cell
Publications

PubMed=30468996; DOI=10.1016/j.scr.2018.11.007
Sanjurjo-Soriano C., Erkilic N., Manes G., Dubois G., Hamel C.P., Meunier I., Kalatzis V.
Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2.
Stem Cell Res. 33:247-250(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; INMi002-A
Encyclopedic resources Wikidata; Q94317989
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number7