Cellosaurus cell line BBANTWi011-A (CVCL

Cross-references
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; 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
Publications	PubMed=36905820; DOI=10.1016/j.scr.2023.103061 Ilse Van Gucht, Lucia Buccioli, Laura Rabaut, Ivanna Fedoryshchenko, Josephina A.N. Meester, Lut Van Laer, Bart Leo Loeys, Aline Verstraeten; 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 creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5