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Cellosaurus INMi005-A (CVCL_B7MC)

[Text version]
Cell line name INMi005-A
Synonyms USH2A-RP-2-iPSC
Accession CVCL_B7MC
Resource Identification Initiative To cite this cell line use: INMi005-A (RRID:CVCL_B7MC)
Comments From: Institute for Neurosciences of Montpellier; Montpellier; France.
Population: Caucasian.
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.Cys759Phe (c.2276G>T); ClinVar=VCV000002356; Zygosity=Heterozygous (PubMed=35248879).
  • Mutation; HGNC; 12601; USH2A; Simple; p.Leu2451Pro (c.7352T>C); Zygosity=Heterozygous (PubMed=35248879).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 38Y
Category Induced pluripotent stem cell
Publications

PubMed=35248879; DOI=10.1016/j.scr.2022.102738
Sanjurjo-Soriano C., Erkilic N., Vache C., Dubois G., Roux A.-F., Meunier I., Kalatzis V.
Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosa.
Stem Cell Res. 60:102738-102738(2022)

Cross-references
Cell line databases/resources hPSCreg; INMi005-A
Encyclopedic resources Wikidata; Q112929865
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4