Alexander disease Collection

Alexander disease Collection

Alexander disease is a rare and fatal neurological disorder characterized by destruction of the myelin sheath and abnormal protein deposits known as Rosenthal fibers. Around 95% of cases of Alexander disease are caused by mutations in the GFAP gene, which is primarily expressed in astrocytes. Affected individuals suffer from seizures, ataxia and developmental delay.

This collection, deposited by Dr. Su-Chun Zhang from the University of Wisconsin-Madison, consists of iPSCs reprogrammed from fibroblasts of two affected type-II Alexander disease donors. The GFAP mutation is known for both donors, and was genetically corrected using CRISPR/Cas9 to generate isogenic control cell lines.

The publication describing this collection of cell lines can be found here.

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Showing 1 – 4 of 4 Cell Lines 4 Cell Lines Showing the single result No results found
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Cell Line
Cell Line Alias
Cell Type
Disease
Genetic Alteration/Mutation
Sex
Age at Collection
Ethnicity
Genetically Related Cell Lines
dbGaP Data
R416
Modified Human iPS
None reported
Mutated allele corrected using CRISPR/Cas9
Male
8 Years
No
No
W416
Human iPS
Alexander disease (Type II)
C->T transition results in mutation at amino acid residue 416.
Male
8 Years
No
No
C88
Human iPS
Alexander disease (Type II)
C->T transition results in mutation at amino acid residue 88.
Male
5 Years
No
No
R88
Modified Human iPS
None reported
Mutated allele corrected using CRISPR/Cas9
Male
5 Years
No
No

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