ID   BBANTWi009-A
AC   CVCL_C0C7
DR   BioSamples; SAMEA14207933
DR   hPSCreg; BBANTWi009-A
DR   Wikidata; Q112929275
RX   PubMed=36599284;
CC   From: Biobank Antwerpen; Antwerp; Belgium.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1044; BGN; Simple; chrX:g.153502980_153530518del (27.5kb deletion); ClinVar=VCV000265797; Zygosity=Hemizygous (PubMed=36599284).
CC   Omics: SNP array analysis.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C187989; Meester-Loeys syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 30-01-24; Version: 6
//
RX   PubMed=36599284; DOI=10.1016/j.scr.2022.103009;
RA   De Kinderen P., Rabaut L., Hebert A., Ponsaerts P., Perik M.H.A.M.,
RA   Meester J.A.N.;
RT   "Generation of an induced pluripotent stem cell (iPSC) line
RT   (BBANTWi009-A) from a Meester-Loeys syndrome patient carrying a BGN
RT   mutation.";
RL   Stem Cell Res. 66:103009-103009(2023).
//