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Cellosaurus CUIMCi005-A (CVCL_C1SZ)

[Text version]
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; 34; ABCA4; Simple; p.Glu1650Argfs*12 (c.4947delC); ClinVar=VCV000289420; Zygosity=Heterozygous (PubMed=36455383).
  • Mutation; 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)

Cross-references
Cell line databases/resources hPSCreg; CUIMCi005-A
Biological sample resources BioSamples; SAMEA110758814
Encyclopedic resources Wikidata; Q114311313
Entry history
Entry creation22-Sep-2022
Last entry update05-Oct-2023
Version number5