ID   IDVi003-A
AC   CVCL_XJ40
SY   ITM2B-5286-3
DR   BioSamples; SAMEA5945660
DR   hPSCreg; IDVi003-A
DR   Wikidata; Q94314311
RX   PubMed=31731182;
CC   From: Institut de la Vision; Paris; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6174; ITM2B; Simple; p.Glu261Ala (c.782A>C); ClinVar=VCV000157606; Zygosity=Heterozygous (PubMed=31731182).
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)
OI   CVCL_XJ41 ! IDVi003-B
OI   CVCL_XJ42 ! IDVi003-C
SX   Male
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 05-10-23; Version: 9
//
RX   PubMed=31731182; DOI=10.1016/j.scr.2019.101625;
RA   Wohlschlegel J., Letellier C., Liu B.-Q., Mejecase C.,
RA   Slembrouck-Brec A., Condroyer C., Michiels C., Sahel J.-A.,
RA   Reichman S., Zeitz C., Goureau O., Audo I.;
RT   "Generation of human induced pluripotent stem cell lines from a
RT   patient with ITM2B-related retinal dystrophy and a non mutated
RT   brother.";
RL   Stem Cell Res. 41:101625-101625(2019).
//