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Cellosaurus ABi004-A (CVCL_E3QS)

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Cell line name ABi004-A
Synonyms KAA
Accession CVCL_E3QS
Resource Identification Initiative To cite this cell line use: ABi004-A (RRID:CVCL_E3QS)
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.Gln287Ter (c.859C>T); Zygosity=Heterozygous (PubMed=39083856).
  • Mutation; HGNC; HGNC:19698; KCNV2; Simple; p.Lys371Ter (c.1109dup); Zygosity=Heterozygous (PubMed=39083856).
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 Female
Age at sampling 8Y
Category Induced pluripotent stem cell
Publications

PubMed=39083856; DOI=10.1016/j.scr.2024.103512
Almaqdad Alsalloum, Kristina Shefer, Pavel Bogdanov, Natalia Mingaleva, Alexander Kim, Sofya Gumarovna Feoktistova, Olga Mityaeva, Pavel Yuryevich Volchkov;
Establishment of a human induced pluripotent stem cell line (ABi004-A) carrying a compound heterozygous mutation in the KCNV2 gene.
Stem Cell Res. 80:103512-103512(2024)

Cross-references
Cell line databases/resources hPSCreg; ABi004-A
Biological sample resources BioSamples; SAMEA115102216
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1