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Cellosaurus LUMCi007-A (CVCL_WR59)

[Text version]
Cell line name LUMCi007-A
Synonyms LUMC0151iHD01; 151-1
Accession CVCL_WR59
Resource Identification Initiative To cite this cell line use: LUMCi007-A (RRID:CVCL_WR59)
Comments From: Leiden University Medical Center; Leiden; Netherlands.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[46] (c.52CAG(46)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=31326748).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_WR60 ! LUMCi007-B
Sex of cell Male
Age at sampling 51Y
Category Induced pluripotent stem cell
Publications

PubMed=31326748; DOI=10.1016/j.scr.2019.101498
van der Graaf L.M., Gardiner S.L., Tok M., Brands T., Boogaard M.W., Pepers B.A., Eussen B., de Klein A., Aziz N.A., Freund C.M.A.H., Buijsen R.A.M., van Roon-Mom W.M.C.
Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease.
Stem Cell Res. 39:101498-101498(2019)

Cross-references
Cell line databases/resources hPSCreg; LUMCi007-A
Biological sample resources BioSamples; SAMEA6456121
Encyclopedic resources Wikidata; Q95983444
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number10