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Cellosaurus LUMCi008-C (CVCL_WR63)

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Cell line name LUMCi008-C
Synonyms LUMC0152iHD04; 152-4
Accession CVCL_WR63
Resource Identification Initiative To cite this cell line use: LUMCi008-C (RRID:CVCL_WR63)
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_WR61 ! LUMCi008-A
CVCL_WR62 ! LUMCi008-B
Sex of cell Female
Age at sampling 49Y
Category Induced pluripotent stem cell
Publications

PubMed=31326748; DOI=10.1016/j.scr.2019.101498
Linda M. van der Graaf, Sarah L. Gardiner, Merve Tok, Tom Brands, Merel W. Boogaard, Barry A. Pepers, Bert Eussen, Annelies de Klein, N. Ahmad Aziz, Christian M.A.H. Freund, Ronald A.M. Buijsen, Willeke M.C. van Roon-Mom;
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; LUMCi008-C
Biological sample resources BioSamples; SAMEA6456127
Encyclopedic resources Wikidata; Q95983455
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number10