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Cellosaurus BBANTWi011-A (CVCL_C1KJ)

[Text version]
Cell line name BBANTWi011-A
Synonyms iPSC_PBMC_IPO8_p.(Arg474*)
Accession CVCL_C1KJ
Resource Identification Initiative To cite this cell line use: BBANTWi011-A (RRID:CVCL_C1KJ)
Comments From: Biobank Antwerpen; Antwerp; Belgium.
Population: African.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 9853; IPO8; Simple; p.Arg474Ter (c.1420C>T); ClinVar=VCV001047908; Zygosity=Homozygous (PubMed=36905820).
Disease VISS syndrome (NCIt: C198610)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 12Y
Category Induced pluripotent stem cell

PubMed=36905820; DOI=10.1016/j.scr.2023.103061
Van Gucht I., Buccioli L., Rabaut L., Fedoryshchenko I., Meester J.A.N., Van Laer L., Loeys B.L., Verstraeten A.
Generation of one induced pluripotent cell (iPSC) line (BBANTWi011-A) from a patient carrying an IPO8 bi-allelic loss-of-function mutation.
Stem Cell Res. 69:103061-103061(2023)

Cell line databases/resources hPSCreg; BBANTWi011-A
Biological sample resources BioSamples; SAMEA112651399
Encyclopedic resources Wikidata; Q114310688
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4