ID   BBANTWi010-A
AC   CVCL_C0C8
SY   iPSC_PBMC_LDS_TGFB3_KE2M_C9
DR   BioSamples; SAMEA14416997
DR   hPSCreg; BBANTWi010-A
DR   Wikidata; Q112929276
RX   PubMed=36356561;
CC   From: Biobank Antwerpen; Antwerp; Belgium.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11769; TGFB3; Simple; p.Asp263His (c.787G>C); ClinVar=VCV000203492; Zygosity=Heterozygous (PubMed=36356561).
CC   Omics: SNP array analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C188143; Loeys-Dietz syndrome type 5
DI   ORDO; Orphanet_60030; Loeys-Dietz syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36356561; DOI=10.1016/j.scr.2022.102956;
RA   Perik M.H.A.M., Verstraeten A., Nijak-Paeske A., Rabaut L., Van Laer L.,
RA   Loeys B.L.;
RT   "Generation of a human TGFB3-hIPSC line, BBANTWi010-A, from a
RT   Loeys-Dietz syndrome type V patient.";
RL   Stem Cell Res. 65:102956-102956(2022).
//