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Cellosaurus LUMCi052-B (CVCL_D6SK)

[Text version]
Cell line name LUMCi052-B
Synonyms Lu052i#2
Accession CVCL_D6SK
Resource Identification Initiative To cite this cell line use: LUMCi052-B (RRID:CVCL_D6SK)
Comments From: Leiden University Medical Center; Leiden; Netherlands.
Population: Caucasian.
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[66] (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_D6SJ ! LUMCi052-A
CVCL_D6SL ! LUMCi052-C
Sex of cell Female
Age at sampling 20Y
Category Induced pluripotent stem cell
Publications

PubMed=38851031; DOI=10.1016/j.scr.2024.103462
Bouwman L.F., Joosen M.E.M., Buijsen R.A.M., van der Graaf L.M., Pepers B.A., Voesenek B.J.B., Brosens E., van de Warrenburg B.P.C., van Roon-Mom W.M.C.
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; LUMCi052-B
Biological sample resources BioSamples; SAMEA115400113
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2