ID   BBANTWi011-A
AC   CVCL_C1KJ
SY   iPSC_PBMC_IPO8_p.(Arg474*)
DR   BioSamples; SAMEA112651399
DR   hPSCreg; BBANTWi011-A
DR   Wikidata; Q114310688
RX   PubMed=36905820;
CC   From: Biobank Antwerpen; Antwerp; Belgium.
CC   Population: African.
CC   Sequence variation: Mutation; HGNC; 9853; IPO8; Simple; p.Arg474Ter (c.1420C>T); ClinVar=VCV001047908; Zygosity=Homozygous (PubMed=36905820).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198610; VISS syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36905820; DOI=10.1016/j.scr.2023.103061;
RA   Van Gucht I., Buccioli L., Rabaut L., Fedoryshchenko I., Meester J.A.N.,
RA   Van Laer L., Loeys B.L., Verstraeten A.;
RT   "Generation of one induced pluripotent cell (iPSC) line (BBANTWi011-A)
RT   from a patient carrying an IPO8 bi-allelic loss-of-function
RT   mutation.";
RL   Stem Cell Res. 69:103061-103061(2023).
//