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Cellosaurus BIOi003-A (CVCL_C1NS)

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Cell line name BIOi003-A
Synonyms LYN-C1-P6
Accession CVCL_C1NS
Resource Identification Initiative To cite this cell line use: BIOi003-A (RRID:CVCL_C1NS)
Comments From: Beijing Institute of Ophthalmology; Beijing; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Arg408Ter (c.1222C>T); ClinVar=VCV000099035; Zygosity=Heterozygous (PubMed=35973334).
  • Mutation; HGNC; HGNC:34; ABCA4; Simple; p.Phe973Leufs*3 (c.2919-884G>T); Zygosity=Heterozygous (PubMed=35973334).
Disease Stargardt disease (NCIt: C85078)
Stargardt disease (ORDO: Orphanet_827)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 14Y
Category Induced pluripotent stem cell
Publications

PubMed=35973334; DOI=10.1016/j.scr.2022.102894
Lu Tian, Xiao-Hui Zhang, Ke Xu, Yang Li;
Induced pluripotent stem cell line BIOi003-A from a patient with ABCA4-associated retinal dystrophy carrying compound heterozygous c.(1222C>T;2919-884G>T) variants in ABCA4.
Stem Cell Res. 64:102894-102894(2022)

Cross-references
Cell line databases/resources hPSCreg; BIOi003-A
Biological sample resources BioSamples; SAMEA14374207
Encyclopedic resources Wikidata; Q114310750
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number5