Cellosaurus cell line CUIMCi005-A (CVCL

Cross-references
Cell line name	CUIMCi005-A
Synonyms	BB#2; BB9068#2; 9068
Accession	CVCL_C1SZ
Resource Identification Initiative	To cite this cell line use: CUIMCi005-A (RRID:CVCL_C1SZ)
Comments	From: Columbia University Irving Medical Center; New York; USA. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Glu1650Argfs*12 (c.4947delC); ClinVar=VCV000289420; Zygosity=Heterozygous (PubMed=36455383). Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Gly1961Glu (c.5882G>A); ClinVar=VCV000007888; Zygosity=Heterozygous (PubMed=36455383).
Disease	Stargardt disease (NCIt: C85078) Stargardt disease (ORDO: Orphanet_827)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	34Y
Category	Induced pluripotent stem cell
Publications	PubMed=36455383; DOI=10.1016/j.scr.2022.102973; PMCID=PMC9801682 Su P.-Y., Lee W., Zernant J., Tsang S.H., Nagasaki T., Corneo B., Allikmets R. Establishment of the iPSC line CUIMCi005-A from a patient with Stargardt disease for retinal organoid culture. Stem Cell Res. 65:102973-102973(2022)
Cell line databases/resources	hPSCreg; CUIMCi005-A
Biological sample resources	BioSamples; SAMEA110758814
Encyclopedic resources	Wikidata; Q114311313
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	6