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Donor information

Ethnicity:Caucasian, German

Disease status

Disease: Spinocerebellar ataxia type 3
Affected: Yes
Carrier: Yes
Disease stage: Scores on the Scale for the Assessment and Rating of Ataxia (SARA, range: 0 – 40) was 22.5
Disease variant
Gene: ATXN3
Chromosome location: 14q32.12
Zygosity: Heterozygous
Publication: http://www.ncbi.nlm.nih.gov/pubmed/PMID: 22113611
Description: ATXN3: CAG repeat length of 74/22
Disease associated phenotypes:Symptomatic, 7 years post disease onset., ataxia, wheelchair-bound; in addition to ataxia: parkinsonism, restless legs syndrome (RLS), spasticity, facial dystonia, and neuropathy.
Family history:De novo mutation

General information

Depositor:Universitätsklinikum Bonn
Cell line name:UKBi003-A
Cell line alternative names:iLB-MJD1-32m-r9, LB-32-r9
Biosamples ID:SAMEA2614075
hPSCreg name:UKBi003-A
Derivation country:Germany
Reference publications:
Timepoint: 48 hours post-passage
Magnification: 4x
Timepoint: 48 hours post-passage
Magnification: 10x
Timepoint: Confluence
Magnification: 4x
Timepoint: Confluence
Magnification: 10x
At European Collection of Authenticated Cell Cultures (ECACC)
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Cell Line Information Pack
A Cell Line Information Pack (CLIP) is created to communicate cell line specific information relating to restrictions on use to a user accessing cell lines from EBiSC. A CLIP contains information about a cell line including any specific third party obligations (TPOs) relating to, for example, intellectual property (IP) or the donor consent which affect the use of the cell line.