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Cellosaurus CMGANTi005-A (CVCL_D0QU)

[Text version]
Cell line name CMGANTi005-A
Synonyms iPSC_MFS_FBN1_MCE-KB_C8
Accession CVCL_D0QU
Resource Identification Initiative To cite this cell line use: CMGANTi005-A (RRID:CVCL_D0QU)
Comments From: Center of Medical Genetics Antwerp; Antwerp; Belgium.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3603; FBN1; Simple; p.Ile2585Thr (c.7754T>C); ClinVar=VCV000163462; Zygosity=Heterozygous (PubMed=36708686).
Disease Marfan syndrome (NCIt: C34807)
Marfan syndrome (ORDO: Orphanet_558)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 68Y
Category Induced pluripotent stem cell
Publications

PubMed=36708686; DOI=10.1016/j.scr.2023.103032
van den Heuvel L.J.F., Peeters S., Meester J.A.N., Perik M.H.A.M., Coucke P., Loeys B.L.
A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr) variation.
Stem Cell Res. 67:103032-103032(2023)

Cross-references
Cell line databases/resources hPSCreg; CMGANTi005-A
Biological sample resources BioSamples; SAMEA112328776
Encyclopedic resources Wikidata; Q123030949
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2