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Cellosaurus LUMCi012-B (CVCL_XJ85)

[Text version]
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; 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
van der Wal E., den Hamer B., van der Vliet P.J., Tok M., Brands T., Eussen B., Lemmers R.J.L.F., Freund C.M.A.H., de Klein A., Buijsen R.A.M., van Roon-Mom W.M.C., Tawil R., van der Maarel S.M., de Greef J.C.
Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients.
Stem Cell Res. 40:101560-101560(2019)

Cross-references
Cell line databases/resources hPSCreg; LUMCi012-B
Encyclopedic resources Wikidata; Q95983470
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number8