ID   INMi002-A
AC   CVCL_UJ76
SY   USH2A-USH-iPSC
DR   hPSCreg; INMi002-A
DR   Wikidata; Q94317989
RX   PubMed=30468996;
RX   PubMed=31909088;
CC   From: Institute for Neurosciences of Montpellier; Montpellier; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Glu767Serfs*21 (c.2299delG); ClinVar=VCV000002351; Zygosity=Homozygous (PubMed=30468996).
CC   Omics: Genomics; Whole exome sequencing.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126328; Usher syndrome type 2
DI   ORDO; Orphanet_231178; Usher syndrome type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   59Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 10-04-25; Version: 9
CH   CVCL_YR33 ! INMi002-A-1
//
RX   PubMed=31909088; DOI=10.1016/j.omtm.2019.11.016; PMCID=PMC6938853;
RA   Sanjurjo-Soriano, Carla
RA   Erkilic, Nejla
RA   Baux, David
RA   Mamaeva, Daria
RA   Hamel, Christian Paul
RA   Meunier, Isabelle
RA   Roux, Anne-Francoise
RA   Kalatzis, Vasiliki
RT   "Genome editing in patient iPSCs corrects the most prevalent USH2A
RT   mutations and reveals intriguing mutant mRNA expression profiles.";
RL   Mol. Ther. Methods Clin. Dev. 17:156-173(2020).
//
RX   PubMed=30468996; DOI=10.1016/j.scr.2018.11.007;
RA   Sanjurjo-Soriano, Carla
RA   Erkilic, Nejla
RA   Manes, Gael
RA   Dubois, Gregor
RA   Hamel, Christian Paul
RA   Meunier, Isabelle
RA   Kalatzis, Vasiliki
RT   "Generation of a human iPSC line, INMi002-A, carrying the most
RT   prevalent USH2A variant associated with Usher syndrome type 2.";
RL   Stem Cell Res. 33:247-250(2018).
//