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Generation of iPSC line from a Parkinson patient with PARK7 mutation and CRISPR-edited Gibco human episomal iPSC line to mimic PARK7 mutation
Mutations in the oncogene PARK7, which codes for DJ-1, have been associated with early-onset autosomal recessive Parkinson’s disease (PD); however, the exact role of DJ-1 in PD remains elusive. Fibroblasts from a PD patient with a uniparental disomy, 1 bp deletion in PARK7 were reprogrammed into the...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8451958/ https://www.ncbi.nlm.nih.gov/pubmed/34419745 http://dx.doi.org/10.1016/j.scr.2021.102506 |
Sumario: | Mutations in the oncogene PARK7, which codes for DJ-1, have been associated with early-onset autosomal recessive Parkinson’s disease (PD); however, the exact role of DJ-1 in PD remains elusive. Fibroblasts from a PD patient with a uniparental disomy, 1 bp deletion in PARK7 were reprogrammed into the induced pluripotent stem cell (iPSC) line: NIHTVBi015-A. For control purposes, CRISPR-Cas9 editing was used to mimic the mutation in the Gibco Human Episomal iPSC line: TMOi001-A is the control line (A18945) and TMOi001-A-3 is the control-edited line (2B10). All 3 lines exhibit normal karyotyping and expression of pluripotent markers: OCT4, SOX2, and NANOG. These lines provide a translational environment to study DJ-1-related function in PD. |
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