ID   INMi005-A
AC   CVCL_B7MC
SY   USH2A-RP-2-iPSC
DR   hPSCreg; INMi005-A
DR   Wikidata; Q112929865
RX   PubMed=35248879;
CC   From: Institute for Neurosciences of Montpellier; Montpellier; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12601; USH2A; Simple; p.Cys759Phe (c.2276G>T); ClinVar=VCV000002356; Zygosity=Heterozygous (PubMed=35248879).
CC   Sequence variation: Mutation; HGNC; 12601; USH2A; Simple; p.Leu2451Pro (c.7352T>C); Zygosity=Heterozygous (PubMed=35248879).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
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RX   PubMed=35248879; DOI=10.1016/j.scr.2022.102738;
RA   Sanjurjo-Soriano C., Erkilic N., Vache C., Dubois G., Roux A.-F.,
RA   Meunier I., Kalatzis V.;
RT   "Generation of a human iPSC line, INMi005-A, from a patient with
RT   non-syndromic USH2A-associated retinitis pigmentosa.";
RL   Stem Cell Res. 60:102738-102738(2022).
//