ID   IDVi003-A-4
AC   CVCL_C9J4
SY   IDVi003-A_CR13; ITM2B-5286-3_CR13
DR   hPSCreg; IDVi003-A-4
DR   Wikidata; Q123032663
RX   PubMed=37473460;
CC   From: Institut de la Vision; Paris; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6174; ITM2B; Simple_corrected; p.Glu261Ala (c.782A>C); ClinVar=VCV000157606; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37473460).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168587; Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
DI   ORDO; Orphanet_397758; Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_XJ40 ! IDVi003-A
SX   Male
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37473460; DOI=10.1016/j.scr.2023.103166;
RA   Ben Yacoub T., Letellier C., Wohlschlegel J., Condroyer C.,
RA   Slembrouck-Brec A., Goureau O., Zeitz C., Audo I.;
RT   "Generation of gene corrected human isogenic iPSC lines
RT   (IDVi003-A_CR13, IDVi003-A_CR21, IDVi003-A_CR24) from an inherited
RT   retinal dystrophy patient-derived IPSC line ITM2B-5286-3 (IDVi003-A)
RT   carrying the ITM2B c.782A > C variant using CRISPR/Cas9.";
RL   Stem Cell Res. 71:103166-103166(2023).
//