Cellosaurus cell line SCA3.B11 (CVCL

Cross-references
Cell line name	SCA3.B11
Accession	CVCL_DQ99
Resource Identification Initiative	To cite this cell line use: SCA3.B11 (RRID:CVCL_DQ99)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:7106; ATXN3; Repeat_expansion; c.892CAG[78]; Zygosity=Heterozygous; Note=The other allele has 14 repeats (PubMed=27596958).
Disease	Spinocerebellar ataxia type 3 (NCIt: C84830) Spinocerebellar ataxia type 3 (ORDO: Orphanet_98757)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_VF01 ! SCA3.B1
Sex of cell	Male
Age at sampling	58Y
Category	Induced pluripotent stem cell
Publications	PubMed=27346191; DOI=10.1016/j.scr.2016.02.042 Hansen S.K., Borland H., Hasholt L.F., Tumer Z., Nielsen J.E., Rasmussen M.A., Nielsen T.T., Stummann T.C., Fog K., Hyttel P. Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11. Stem Cell Res. 16:589-592(2016) PubMed=27596958; DOI=10.1016/j.scr.2016.07.004 Hansen S.K., Stummann T.C., Borland H., Hasholt L.F., Tumer Z., Nielsen J.E., Rasmussen M.A., Nielsen T.T., Daechsel J.C.A., Fog K., Hyttel P. Induced pluripotent stem cell-derived neurons for the study of spinocerebellar ataxia type 3. Stem Cell Res. 17:306-317(2016)
Encyclopedic resources	Wikidata; Q54952318
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	11