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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.

ABSTRACT: 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.

SUBMITTER: Mazza MC

PROVIDER: S-EPMC8451958 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature

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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.

Mazza Melissa Conti MC Beilina Alexandra A Roosen Dorien A DA Hauser David D Cookson Mark R MR

Stem cell research 20210817

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 ...[more]

PMID: 34419745

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