Cellosaurus cell line LUMCi012-B (CVCL

Cellosaurus LUMCi012-B (CVCL_XJ85)

Cross-references
Cell line name	LUMCi012-B
Synonyms	LUMC0163iFSHD04; 0163-FSHD04
Accession	CVCL_XJ85
Resource Identification Initiative	To cite this cell line use: LUMCi012-B (RRID:CVCL_XJ85)
Comments	From: Leiden University Medical Center; Leiden; Netherlands. Population: Caucasian. Characteristics: While the patient is suffering from facioscapulohumeral muscular dystrophy 1 he is mosaic for the D4Z4 repeat contraction. The fibroblast from which this iPSC was derived bears the contraction. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Gene deletion; HGNC; HGNC:50800; DUX4; Zygosity=Mosaic; Note=D4Z4 repeat contraction (to 2 repeats) (PubMed=31518905).
Disease	Facioscapulohumeral muscular dystrophy 1 (NCIt: C172704) Facioscapulohumeral dystrophy (ORDO: Orphanet_269)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_XJ84 ! LUMCi012-A
Sex of cell	Male
Age at sampling	60Y
Category	Induced pluripotent stem cell
Publications	PubMed=31518905; DOI=10.1016/j.scr.2019.101560 Erik van der Wal, Bianca den Hamer, Patrick J. van der Vliet, Merve Tok, Tom Brands, Bert Eussen, Richard J.L.F. Lemmers, Christian M.A.H. Freund, Annelies de Klein, Ronald A.M. Buijsen, Willeke M.C. van Roon-Mom ...Show all 14 authors... , Rabi Tawil, Silvere Maria van der Maarel, Jessica C. de Greef; Show fewer authors Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients. Stem Cell Res. 40:101560-101560(2019)
Cell line databases/resources	hPSCreg; LUMCi012-B
Encyclopedic resources	Wikidata; Q95983470
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	9