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Cellosaurus LUMCi051-B (CVCL_D6SM)

[Text version]
Cell line name LUMCi051-B
Synonyms Lu051i#2
Accession CVCL_D6SM
Resource Identification Initiative To cite this cell line use: LUMCi051-B (RRID:CVCL_D6SM)
Comments From: Leiden University Medical Center; Leiden; Netherlands.
Population: African.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Cell type: Erythroblast; CL=CL_0000765.
Sequence variations
  • Mutation; HGNC; HGNC:10560; ATXN7; Repeat_expansion; CAG[63] (g.53130CAG[(38_130)]); ClinVar=VCV000562100; Zygosity=Heterozygous; Note=The other allele has 10 repeats (PubMed=38851031).
Disease Spinocerebellar ataxia type 7 (NCIt: C126562)
Spinocerebellar ataxia type 7 (ORDO: Orphanet_94147)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D6SI ! LUMCi051-A
Sex of cell Female
Age at sampling 26Y
Category Induced pluripotent stem cell
Publications

PubMed=38851031; DOI=10.1016/j.scr.2024.103462
Linde F. Bouwman, Milou E.M. Joosen, Ronald A.M. Buijsen, Linda M. van der Graaf, Barry A. Pepers, Bas J.B. Voesenek, Erwin Brosens, Bart P.C. van de Warrenburg, Willeke M.C. van Roon-Mom;
Generation of human induced pluripotent stem cell lines (LUMCi051-A,B and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type 7.
Stem Cell Res. 78:103462-103462(2024)

Cross-references
Cell line databases/resources hPSCreg; LUMCi051-B
Biological sample resources BioSamples; SAMEA115402240
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2