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Cellosaurus LUMCi002-B (CVCL_VE43)

[Text version]
Cell line name LUMCi002-B
Synonyms LUMC0113iATAX07; 113-7
Accession CVCL_VE43
Resource Identification Initiative To cite this cell line use: LUMCi002-B (RRID:CVCL_VE43)
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:10548; ATXN1; Repeat_expansion; CAG[46]; Zygosity=Heterozygous; Note=The other allele has 29 repeats (PubMed=29656178).
Disease Spinocerebellar ataxia type 1 (NCIt: C129982)
Spinocerebellar ataxia type 1 (ORDO: Orphanet_98755)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_VE42 ! LUMCi002-A
CVCL_VE44 ! LUMCi002-C
Sex of cell Male
Age at sampling 43Y
Category Induced pluripotent stem cell
Publications

PubMed=29656178; DOI=10.1016/j.scr.2018.03.018
Ronald A.M. Buijsen, Sarah L. Gardiner, Marga J. Bouma, Linda M. van der Graaf, Merel W. Boogaard, Barry A. Pepers, Bert Eussen, Annelies de Klein, Christian M.A.H. Freund, Willeke M.C. van Roon-Mom;
Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B.
Stem Cell Res. 29:125-128(2018)

Cross-references
Cell line databases/resources hPSCreg; LUMCi002-B
SKIP; SKIP003232
Biological sample resources BioSamples; SAMEA6456116
Encyclopedic resources Wikidata; Q54903271
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number11