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Cellosaurus ABi002-A (CVCL_C6TJ)

[Text version]
Cell line name ABi002-A
Synonyms KCNV2-/-
Accession CVCL_C6TJ
Resource Identification Initiative To cite this cell line use: ABi002-A (RRID:CVCL_C6TJ)
Comments From: Moscow Institute of Physics and Technology, National Research University; Moscow; Russia.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 19698; KCNV2; Simple; c.754A>T; Zygosity=Heterozygous (PubMed=37121194).
  • Mutation; HGNC; 19698; KCNV2; Simple; p.Ala259Thr (c.775G>A); Zygosity=Heterozygous (PubMed=37121194).
Disease Retinal cone dystrophy 3B (NCIt: C192089)
Cone dystrophy with supernormal rod response (ORDO: Orphanet_209932)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9Y
Category Induced pluripotent stem cell

PubMed=37121194; DOI=10.1016/j.scr.2023.103099
Alsalloum A., Mityaeva O., Kegeles E., Khavina E., Volchkov P.
Generation of two human induced pluripotent stem cell lines (ABi001-A and ABi002-A) from cone dystrophy with supernormal rod response patients caused by KCNV2 mutation.
Stem Cell Res. 69:103099-103099(2023)

Cell line databases/resources hPSCreg; ABi002-A
Biological sample resources BioSamples; SAMEA112165270
Encyclopedic resources Wikidata; Q123030647
Entry history
Entry creation21-Mar-2023
Last entry update30-Jan-2024
Version number3