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Cellosaurus CMGANTi008-A (CVCL_D0D7)

[Text version]
Cell line name CMGANTi008-A
Synonyms iPSC_MFS_FBN1_Fi930129_C8
Accession CVCL_D0D7
Resource Identification Initiative To cite this cell line use: CMGANTi008-A (RRID:CVCL_D0D7)
Comments From: Center of Medical Genetics Antwerp; Antwerp; Belgium.
Population: Caucasian; Belgian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3603; FBN1; Simple; p.Cys1791Tyr (c.5372G>A); ClinVar=VCV000263568; Zygosity=Heterozygous (PubMed=36801568).
Disease Marfan syndrome (NCIt: C34807)
Marfan syndrome (ORDO: Orphanet_558)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 15Y
Category Induced pluripotent stem cell

PubMed=36801568; DOI=10.1016/j.scr.2023.103050
Peeters S., Fedoryshchenko I., Rabaut L., Verstraeten A., Loeys B.L.
Generation of an induced pluripotent stem cell (iPSC) line of a Marfan syndrome patient with a pathogenic FBN1 c.5372G>A (p.Cys1791Tyr) variant.
Stem Cell Res. 68:103050-103050(2023)

Cell line databases/resources hPSCreg; CMGANTi008-A
Biological sample resources BioSamples; SAMEA112366464
Encyclopedic resources Wikidata; Q123030953
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2