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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; 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
Buijsen R.A.M., Gardiner S.L., Bouma M.J., van der Graaf L.M., Boogaard M.W., Pepers B.A., Eussen B., de Klein A., Freund C.M.A.H., van Roon-Mom W.M.C.
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 update29-Jun-2023
Version number10