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Cellosaurus INMi002-A-1 (CVCL_YR33)

[Text version]
Cell line name INMi002-A-1
Synonyms USH2A-USH-iPSC clone B3B1
Accession CVCL_YR33
Resource Identification Initiative To cite this cell line use: INMi002-A-1 (RRID:CVCL_YR33)
Comments From: Institute for Neurosciences of Montpellier; Montpellier; France.
Population: Caucasian.
Omics: Genomics; Whole exome sequencing.
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.Glu767Serfs*21 (c.2299delG); ClinVar=VCV000002351; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=31909088).
Disease Usher syndrome type 2 (NCIt: C126328)
Usher syndrome type 2 (ORDO: Orphanet_231178)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_UJ76 (INMi002-A)
Sex of cell Female
Age at sampling 59Y
Category Induced pluripotent stem cell
Publications

PubMed=31909088; DOI=10.1016/j.omtm.2019.11.016; PMCID=PMC6938853
Carla Sanjurjo-Soriano, Nejla Erkilic, David Baux, Daria Mamaeva, Christian Paul Hamel, Isabelle Meunier, Anne-Francoise Roux, Vasiliki Kalatzis;
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; Q94317993
Entry history
Entry creation12-Mar-2020
Last entry update10-Apr-2025
Version number8