Cellosaurus cell line CMGANTi005-A (CVCL

Cross-references
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; 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 Lotte J.F. van den Heuvel, Silke Peeters, Josephina A.N. Meester, Melanie H.A.M. Perik, Paul Coucke, Bart Leo Loeys; 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)
Cell line databases/resources	hPSCreg; CMGANTi005-A
Biological sample resources	BioSamples; SAMEA112328776
Encyclopedic resources	Wikidata; Q123030949
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3