Generation of iPSC line from a Parkinson patient with PARK7 mutation and CRISPR-edited Gibco human episomal iPSC line to mimic PARK7 mutation.

Autor:	Mazza MC; National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, United States., Beilina A; National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, United States., Roosen DA; National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, United States., Hauser D; National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, United States., Cookson MR; National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, United States. Electronic address: cookson@mail.nih.gov.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2021 Aug; Vol. 55, pp. 102506. Date of Electronic Publication: 2021 Aug 17.
DOI:	10.1016/j.scr.2021.102506
Abstrakt:	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. (Published by Elsevier B.V.)
Databáze:	MEDLINE
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