Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson's disease

Standard

Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson's disease. / Malakhova, A. A.; Grigor'eva, E. V.; Vasilyeva, O. Yu и др.

в: Stem Cell Research, Том 47, 101922, 01.08.2020.

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

Harvard

Malakhova, AA, Grigor'eva, EV, Vasilyeva, OY, Zhigalina, DI, Skryabin, NA, Sivtcev, AA, Kolesnikov, NA, Bueverov, AO, Lebedev, IN, Bogomolov, PO & Zakian, SM 2020, 'Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson's disease', Stem Cell Research, Том. 47, 101922. https://doi.org/10.1016/j.scr.2020.101922

APA

Malakhova, A. A., Grigor'eva, E. V., Vasilyeva, O. Y., Zhigalina, D. I., Skryabin, N. A., Sivtcev, A. A., Kolesnikov, N. A., Bueverov, A. O., Lebedev, I. N., Bogomolov, P. O., & Zakian, S. M. (2020). Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson's disease. Stem Cell Research, 47, [101922]. https://doi.org/10.1016/j.scr.2020.101922

Vancouver

Malakhova AA, Grigor'eva EV, Vasilyeva OY, Zhigalina DI, Skryabin NA, Sivtcev AA и др. Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson's disease. Stem Cell Research. 2020 авг. 1;47:101922. Epub 2020 июль 25. doi: 10.1016/j.scr.2020.101922

Author

Malakhova, A. A. ; Grigor'eva, E. V. ; Vasilyeva, O. Yu и др. / Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson's disease. в: Stem Cell Research. 2020 ; Том 47.

BibTeX

@article{e3bf3431bf774973ab606a98924ec90b,

title = "Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson's disease",

abstract = "Wilson's disease is an inherited disorder associated with copper accumulation in the liver, brain and other vital organs. Wilson's disease is caused by mutations in the ATP7B gene. Over 300 mutations of ATP7B have been described. Despite the disease is autosomal recessive, the patient whose PBMCs were reprogrammed in the study harbours heterozygous mutation c.3207C > A (p.H1069Q). Detailed analysis of the ATP7B complete gene sequencing data has not revealed other known disease associated mutation. The generated iPSC lines maintained the original genotype, expressed pluripotency markers, had normal karyotype and demonstrated the ability to differentiate into derivatives of the three germ layers.",

author = "Malakhova, {A. A.} and Grigor'eva, {E. V.} and Vasilyeva, {O. Yu} and Zhigalina, {D. I.} and Skryabin, {N. A.} and Sivtcev, {A. A.} and Kolesnikov, {N. A.} and Bueverov, {A. O.} and Lebedev, {I. N.} and Bogomolov, {P. O.} and Zakian, {S. M.}",

year = "2020",

month = aug,

day = "1",

doi = "10.1016/j.scr.2020.101922",

language = "English",

volume = "47",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

}

RIS

TY - JOUR

T1 - Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson's disease

AU - Malakhova, A. A.

AU - Grigor'eva, E. V.

AU - Vasilyeva, O. Yu

AU - Zhigalina, D. I.

AU - Skryabin, N. A.

AU - Sivtcev, A. A.

AU - Kolesnikov, N. A.

AU - Bueverov, A. O.

AU - Lebedev, I. N.

AU - Bogomolov, P. O.

AU - Zakian, S. M.

PY - 2020/8/1

Y1 - 2020/8/1

N2 - Wilson's disease is an inherited disorder associated with copper accumulation in the liver, brain and other vital organs. Wilson's disease is caused by mutations in the ATP7B gene. Over 300 mutations of ATP7B have been described. Despite the disease is autosomal recessive, the patient whose PBMCs were reprogrammed in the study harbours heterozygous mutation c.3207C > A (p.H1069Q). Detailed analysis of the ATP7B complete gene sequencing data has not revealed other known disease associated mutation. The generated iPSC lines maintained the original genotype, expressed pluripotency markers, had normal karyotype and demonstrated the ability to differentiate into derivatives of the three germ layers.

AB - Wilson's disease is an inherited disorder associated with copper accumulation in the liver, brain and other vital organs. Wilson's disease is caused by mutations in the ATP7B gene. Over 300 mutations of ATP7B have been described. Despite the disease is autosomal recessive, the patient whose PBMCs were reprogrammed in the study harbours heterozygous mutation c.3207C > A (p.H1069Q). Detailed analysis of the ATP7B complete gene sequencing data has not revealed other known disease associated mutation. The generated iPSC lines maintained the original genotype, expressed pluripotency markers, had normal karyotype and demonstrated the ability to differentiate into derivatives of the three germ layers.

UR - http://www.scopus.com/inward/record.url?scp=85088780561&partnerID=8YFLogxK

U2 - 10.1016/j.scr.2020.101922

DO - 10.1016/j.scr.2020.101922

M3 - Article

C2 - 32738633

AN - SCOPUS:85088780561

VL - 47

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

M1 - 101922

ER -

ID: 24869895