Cellosaurus cell line IDVi003-C (CVCL

Cross-references
Cell line name	IDVi003-C
Synonyms	ITM2B-5286-19
Accession	CVCL_XJ42
Resource Identification Initiative	To cite this cell line use: IDVi003-C (RRID:CVCL_XJ42)
Comments	From: Institut de la Vision; Paris; 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; HGNC:6174; ITM2B; Simple; p.Glu261Ala (c.782A>C); ClinVar=VCV000157606; Zygosity=Heterozygous (PubMed=31731182).
Disease	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities (NCIt: C168587) Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (ORDO: Orphanet_397758)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_XJ40 ! IDVi003-A CVCL_XJ41 ! IDVi003-B
Sex of cell	Male
Age at sampling	53Y
Category	Induced pluripotent stem cell
Publications	PubMed=31731182; DOI=10.1016/j.scr.2019.101625 Wohlschlegel J., Letellier C., Liu B.-Q., Mejecase C., Slembrouck-Brec A., Condroyer C., Michiels C., Sahel J.-A., Reichman S., Zeitz C., Goureau O., Audo I. Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother. Stem Cell Res. 41:101625-101625(2019)
Cell line databases/resources	hPSCreg; IDVi003-C
Encyclopedic resources	Wikidata; Q94314317
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	10