ID   BBANTWi008-A
AC   CVCL_B7E0
SY   iPSC_PBMC_LDS_SMAD3_T1_C11; iPSC_PBMC_LDS_SMAD3_T1_Clone 11; CMGANTi001-A
DR   BioSamples; SAMEA13601154
DR   hPSCreg; BBANTWi008-A
DR   Wikidata; Q112929274
RX   PubMed=36219981;
CC   From: Biobank Antwerpen; Antwerp; Belgium.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6769; SMAD3; Simple; p.Arg287Gln (c.860G>A); ClinVar=VCV000180524; Zygosity=Heterozygous (PubMed=36219981).
CC   Omics: SNP array analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C186786; Loeys-Dietz syndrome type 3
DI   ORDO; Orphanet_60030; Loeys-Dietz syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 5
//
RX   PubMed=36219981; DOI=10.1016/j.scr.2022.102932;
RA   Velchev J.D., Verstraeten A., Meester J.A.N., Ponsaerts P., Richer J.,
RA   Alaerts M., Loeys B.L.;
RT   "Generation and validation of an iPSC line (BBANTWi008-A) from a
RT   Loeys-Dietz syndrome type 3 patient.";
RL   Stem Cell Res. 64:102932-102932(2022).
//