Cellosaurus cell line UGENTi001-A-1 (CVCL

Cross-references
Cell line name	UGENTi001-A-1
Synonyms	UGENT-MFS003-CRISPR
Accession	CVCL_D0ML
Resource Identification Initiative	To cite this cell line use: UGENTi001-A-1 (RRID:CVCL_D0ML)
Comments	From: Ghent University; Ghent; Belgium. Population: Caucasian. Derived from site: In situ; Urine; UBERON=UBERON_0001088. Cell type: Epithelial cell of kidney; CL=CL_0002518.
Sequence variations	Mutation; HGNC; HGNC:3603; FBN1; Simple_corrected; p.Ile2585Thr (c.7754T>C); ClinVar=VCV000163462; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36724552).
Disease	Marfan syndrome (NCIt: C34807) Marfan syndrome (ORDO: Orphanet_558)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_C6T5 (UGENTi001-A)
Sex of cell	Male
Age at sampling	34Y
Category	Induced pluripotent stem cell
Publications	PubMed=36724552; DOI=10.1016/j.scr.2023.103036 Jeffrey Aalders, Laurens Leger, Anthony Demolder, Laura Muino Mosquera, Paul Coucke, Bjorn Menten, Julie De Backer, Jolanda van Hengel; Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing. Stem Cell Res. 67:103036-103036(2023)
Cell line databases/resources	hPSCreg; UGENTi001-A-1
Biological sample resources	BioSamples; SAMEA112285422
Encyclopedic resources	Wikidata; Q123033695
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	4