Cellosaurus cell line CMGANTi008-A (CVCL

Cross-references
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; 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
Publications	PubMed=36801568; DOI=10.1016/j.scr.2023.103050 Silke Peeters, Ivanna Fedoryshchenko, Laura Rabaut, Aline Verstraeten, Bart Leo Loeys; 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 creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3