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Cellosaurus BBANTWi009-A (CVCL_C0C7)

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Cell line name BBANTWi009-A
Accession CVCL_C0C7
Resource Identification Initiative To cite this cell line use: BBANTWi009-A (RRID:CVCL_C0C7)
Comments From: Biobank Antwerpen; Antwerp; Belgium.
Population: Caucasian.
Omics: Variations; SNP array analysis.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1044; BGN; Simple; chrX:g.153502980_153530518del (27.5kb deletion); ClinVar=VCV000265797; Zygosity=Hemizygous (PubMed=36599284).
Disease Meester-Loeys syndrome (NCIt: C187989)
X-linked severe syndromic thoracic aortic aneurysm and dissection (ORDO: Orphanet_622925)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=36599284; DOI=10.1016/j.scr.2022.103009
Pauline De Kinderen, Laura Rabaut, Anne Hebert, Peter Ponsaerts, Melanie H.A.M. Perik, Josephina A.N. Meester;
Generation of an induced pluripotent stem cell (iPSC) line (BBANTWi009-A) from a Meester-Loeys syndrome patient carrying a BGN mutation.
Stem Cell Res. 66:103009-103009(2023)

Cross-references
Cell line databases/resources hPSCreg; BBANTWi009-A
Biological sample resources BioSamples; SAMEA14207933
Encyclopedic resources Wikidata; Q112929275
Entry history
Entry creation23-Jun-2022
Last entry update10-Apr-2025
Version number8