Cellosaurus cell line BBANTWi010-A (CVCL

Cross-references
Cell line name	BBANTWi010-A
Synonyms	iPSC_PBMC_LDS_TGFB3_KE2M_C9
Accession	CVCL_C0C8
Resource Identification Initiative	To cite this cell line use: BBANTWi010-A (RRID:CVCL_C0C8)
Comments	From: Biobank Antwerpen; Antwerp; Belgium. Population: Caucasian. Omics: Variations; SNP array analysis. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:11769; TGFB3; Simple; p.Asp263His (c.787G>C); ClinVar=VCV000203492; Zygosity=Heterozygous (PubMed=36356561).
Disease	Loeys-Dietz syndrome type 5 (NCIt: C188143) Loeys-Dietz syndrome (ORDO: Orphanet_60030)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	38Y
Category	Induced pluripotent stem cell
Publications	PubMed=36356561; DOI=10.1016/j.scr.2022.102956 Melanie H.A.M. Perik, Aline Verstraeten, Aleksandra Nijak-Paeske, Laura Rabaut, Lut Van Laer, Bart Leo Loeys; Generation of a human TGFB3-hIPSC line, BBANTWi010-A, from a Loeys-Dietz syndrome type V patient. Stem Cell Res. 65:102956-102956(2022)
Cell line databases/resources	hPSCreg; BBANTWi010-A
Biological sample resources	BioSamples; SAMEA14416997
Encyclopedic resources	Wikidata; Q112929276
Entry history
Entry creation	23-Jun-2022
Last entry update	10-Apr-2025
Version number	6