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Cellosaurus ABi001-A (CVCL_C6TI)

[Text version]
Cell line name ABi001-A
Synonyms SMN
Accession CVCL_C6TI
Resource Identification Initiative To cite this cell line use: ABi001-A (RRID:CVCL_C6TI)
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; HGNC:19698; KCNV2; Simple; p.Ala259Thr (c.775G>A); Zygosity=Heterozygous (PubMed=37121194).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 45Y
Category Induced pluripotent stem cell
Publications

PubMed=37121194; DOI=10.1016/j.scr.2023.103099
Alsalloum A., Mityaeva O., Kegeles E., Khavina E., Volchkov P.Y.
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)

Cross-references
Cell line databases/resources hPSCreg; ABi001-A
Biological sample resources BioSamples; SAMEA112165269
Encyclopedic resources Wikidata; Q123030646
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4