Generation of an Induced Pluripotent Stem Cell Line, ICGi042-A, by Reprogramming Peripheral Blood Mononuclear Cells from a Parkinson’s Disease Patient with c.1000G>A Mutation in the LRRK2 Gene

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Generation of an Induced Pluripotent Stem Cell Line, ICGi042-A, by Reprogramming Peripheral Blood Mononuclear Cells from a Parkinson’s Disease Patient with c.1000G>A Mutation in the LRRK2 Gene. / Grigor’eva, Elena V.; Pavlova, S. V.; Malakhova, A. A. и др.

в: Russian Journal of Developmental Biology, Том 54, № 1, 2023, стр. 80-87.

Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование

BibTeX

@article{b47a5f912e0a492b950a87c1914b71f7,

title = "Generation of an Induced Pluripotent Stem Cell Line, ICGi042-A, by Reprogramming Peripheral Blood Mononuclear Cells from a Parkinson{\textquoteright}s Disease Patient with c.1000G>A Mutation in the LRRK2 Gene",

abstract = "The search for new polymorphisms associated with hereditary diseases is important for diagnostics and the study of the disease{\textquoteright}s development pathology. The authors have analyzed a clinical exome of a Parkinson{\textquoteright}s disease patient and identified single-nucleotide variations in the LRRK2 (c.1000G>A, c.2167A>G) and PINK1 (c.1562A>C) genes. The LRRK2:c.1000G>A mutation has uncertain clinical significance and is interesting for further investigation. We generated induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMCs) of the patient by nonintegrating episomal vectors. iPSCs demonstrate typical morphology and normal karyotype (46,XY), express pluripotency markers (OCT4, SOX2, NANOG, SSEA4, TRA-1-60), and are able to produce derivatives of three germ layers.",

keywords = "ANIMAL ANATOMY / MORPHOLOGY / HISTOLOGY",

author = "Grigor{\textquoteright}eva, {Elena V.} and Pavlova, {S. V.} and Malakhova, {A. A.} and Medvedev, {S. P.} and Minina, {J. M.} and Vyatkin, {Y. V.} and Khabarova, {E. A.} and Rzaev, {J. A.} and Kovalenko, {L. V.} and Zakian, {S. M.}",

note = "Generation of an Induced Pluripotent Stem Cell Line, ICGi042-A, by Reprogramming Peripheral Blood Mononuclear Cells from a Parkinson's Disease Patient with c.1000G>A Mutation in the LRRK2 Gene / E. V. Grigor'eva, S. V. Pavlova, A. A. Malakhova [et al.] // Russian Journal of Developmental Biology. – 2023. – Vol. 54, No. 1. – P. 80-87. – DOI 10.1134/s106236042301006x. The research was carried out with the financial support of the Ugra Scientific and Technical Development Fund in accordance with the research project no. 2022-05-03/2022. ",

year = "2023",

doi = "10.1134/s106236042301006x",

language = "English",

volume = "54",

pages = "80--87",

journal = "Russian Journal of Developmental Biology",

issn = "1062-3604",

publisher = "Springer Nature",

number = "1",

}

RIS

TY - JOUR

T1 - Generation of an Induced Pluripotent Stem Cell Line, ICGi042-A, by Reprogramming Peripheral Blood Mononuclear Cells from a Parkinson’s Disease Patient with c.1000G>A Mutation in the LRRK2 Gene

AU - Grigor’eva, Elena V.

AU - Pavlova, S. V.

AU - Malakhova, A. A.

AU - Medvedev, S. P.

AU - Minina, J. M.

AU - Vyatkin, Y. V.

AU - Khabarova, E. A.

AU - Rzaev, J. A.

AU - Kovalenko, L. V.

AU - Zakian, S. M.

N1 - Generation of an Induced Pluripotent Stem Cell Line, ICGi042-A, by Reprogramming Peripheral Blood Mononuclear Cells from a Parkinson's Disease Patient with c.1000G>A Mutation in the LRRK2 Gene / E. V. Grigor'eva, S. V. Pavlova, A. A. Malakhova [et al.] // Russian Journal of Developmental Biology. – 2023. – Vol. 54, No. 1. – P. 80-87. – DOI 10.1134/s106236042301006x. The research was carried out with the financial support of the Ugra Scientific and Technical Development Fund in accordance with the research project no. 2022-05-03/2022.

PY - 2023

Y1 - 2023

N2 - The search for new polymorphisms associated with hereditary diseases is important for diagnostics and the study of the disease’s development pathology. The authors have analyzed a clinical exome of a Parkinson’s disease patient and identified single-nucleotide variations in the LRRK2 (c.1000G>A, c.2167A>G) and PINK1 (c.1562A>C) genes. The LRRK2:c.1000G>A mutation has uncertain clinical significance and is interesting for further investigation. We generated induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMCs) of the patient by nonintegrating episomal vectors. iPSCs demonstrate typical morphology and normal karyotype (46,XY), express pluripotency markers (OCT4, SOX2, NANOG, SSEA4, TRA-1-60), and are able to produce derivatives of three germ layers.

AB - The search for new polymorphisms associated with hereditary diseases is important for diagnostics and the study of the disease’s development pathology. The authors have analyzed a clinical exome of a Parkinson’s disease patient and identified single-nucleotide variations in the LRRK2 (c.1000G>A, c.2167A>G) and PINK1 (c.1562A>C) genes. The LRRK2:c.1000G>A mutation has uncertain clinical significance and is interesting for further investigation. We generated induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMCs) of the patient by nonintegrating episomal vectors. iPSCs demonstrate typical morphology and normal karyotype (46,XY), express pluripotency markers (OCT4, SOX2, NANOG, SSEA4, TRA-1-60), and are able to produce derivatives of three germ layers.

KW - ANIMAL ANATOMY / MORPHOLOGY / HISTOLOGY

UR - https://www.mendeley.com/catalogue/5468a63a-317c-3803-acff-346e66f120f4/

UR - https://www.elibrary.ru/item.asp?id=61852294

U2 - 10.1134/s106236042301006x

DO - 10.1134/s106236042301006x

M3 - Article

VL - 54

SP - 80

EP - 87

JO - Russian Journal of Developmental Biology

JF - Russian Journal of Developmental Biology

SN - 1062-3604

IS - 1

ER -

ID: 68329024