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Cellosaurus (CVCL_F1BW)

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Comments 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 Canis lupus familiaris (Dog) (Canis familiaris) (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
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number11