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Cellosaurus BBANTWi008-A (CVCL_B7E0)

[Text version]
Cell line name BBANTWi008-A
Synonyms iPSC_PBMC_LDS_SMAD3_T1_C11; iPSC_PBMC_LDS_SMAD3_T1_Clone 11; CMGANTi001-A
Accession CVCL_B7E0
Resource Identification Initiative To cite this cell line use: BBANTWi008-A (RRID:CVCL_B7E0)
Comments From: Biobank Antwerpen; Antwerp; Belgium.
Population: Caucasian.
Omics: SNP array analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6769; SMAD3; Simple; p.Arg287Gln (c.860G>A); ClinVar=VCV000180524; Zygosity=Heterozygous (PubMed=36219981).
Disease Loeys-Dietz syndrome type 3 (NCIt: C186786)
Loeys-Dietz syndrome (ORDO: Orphanet_60030)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 35Y
Category Induced pluripotent stem cell
Publications

PubMed=36219981; DOI=10.1016/j.scr.2022.102932
Velchev J.D., Verstraeten A., Meester J.A.N., Ponsaerts P., Richer J., Alaerts M., Loeys B.L.
Generation and validation of an iPSC line (BBANTWi008-A) from a Loeys-Dietz syndrome type 3 patient.
Stem Cell Res. 64:102932-102932(2022)

Cross-references
Cell line databases/resources hPSCreg; BBANTWi008-A
Biological sample resources BioSamples; SAMEA13601154
Encyclopedic resources Wikidata; Q112929274
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number5