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Generation of two iPSC lines from healthy donor with a heterozygous mutation in the VPS13B gene. / Chechetkina, S. A.; Khabarova, A. A.; Chvileva, A. S. et al.

In: Stem Cell Research, Vol. 59, 102648, 03.2022.

Research output: Contribution to journal › Article › peer-review

Harvard

Chechetkina, SA, Khabarova, AA, Chvileva, AS, Kurchenko, OM, Smirnov, AV, Yunusova, AM, Kotov, IN, Musatova, EV, Pomerantseva, EA, Volovikov, EA, Lagarkova, MA, Shnaider, TA & Pristyazhnyuk, IE 2022, 'Generation of two iPSC lines from healthy donor with a heterozygous mutation in the VPS13B gene', Stem Cell Research, vol. 59, 102648. https://doi.org/10.1016/j.scr.2021.102648

APA

Chechetkina, S. A., Khabarova, A. A., Chvileva, A. S., Kurchenko, O. M., Smirnov, A. V., Yunusova, A. M., Kotov, I. N., Musatova, E. V., Pomerantseva, E. A., Volovikov, E. A., Lagarkova, M. A., Shnaider, T. A., & Pristyazhnyuk, I. E. (2022). Generation of two iPSC lines from healthy donor with a heterozygous mutation in the VPS13B gene. Stem Cell Research, 59, [102648]. https://doi.org/10.1016/j.scr.2021.102648

Vancouver

Chechetkina SA, Khabarova AA, Chvileva AS, Kurchenko OM, Smirnov AV, Yunusova AM et al. Generation of two iPSC lines from healthy donor with a heterozygous mutation in the VPS13B gene. Stem Cell Research. 2022 Mar;59:102648. Epub 2021 Dec 28. doi: 10.1016/j.scr.2021.102648

Author

Chechetkina, S. A. ; Khabarova, A. A. ; Chvileva, A. S. et al. / Generation of two iPSC lines from healthy donor with a heterozygous mutation in the VPS13B gene. In: Stem Cell Research. 2022 ; Vol. 59.

BibTeX

@article{817592a53801478cb98658055183fa57,
title = "Generation of two iPSC lines from healthy donor with a heterozygous mutation in the VPS13B gene",
abstract = "The human induced pluripotent stem cell (iPSC) lines, iCS-MAF1-1 and iCS-MAF1-11, were generated from fibroblasts. The donor has a heterozygous mutation in the VPS13B gene, which manifests in her child as Cohen syndrome. It is a Golgi pathology, characterized by postnatal microcephaly and delayed growth and mental development. However, the process underlying pathological changes leading to the onset of the disease is still unknown. The use of iPSC will allow describing the early stages of neurogenesis, which is undoubtedly relevant for identifying key stages of development, at which phenotypic manifestations of mutations in the VPS13B gene are found.",
author = "Chechetkina, {S. A.} and Khabarova, {A. A.} and Chvileva, {A. S.} and Kurchenko, {O. M.} and Smirnov, {A. V.} and Yunusova, {A. M.} and Kotov, {I. N.} and Musatova, {E. V.} and Pomerantseva, {E. A.} and Volovikov, {E. A.} and Lagarkova, {M. A.} and Shnaider, {T. A.} and Pristyazhnyuk, {I. E.}",
note = "Funding Information: The reported study was supported by project 121031800061-7 (Mechanisms of genetic control of development, physiological processes, and behavior in animals). Publisher Copyright: {\textcopyright} 2021",
year = "2022",
month = mar,
doi = "10.1016/j.scr.2021.102648",
language = "English",
volume = "59",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Elsevier",

}

RIS

TY - JOUR

T1 - Generation of two iPSC lines from healthy donor with a heterozygous mutation in the VPS13B gene

AU - Chechetkina, S. A.

AU - Khabarova, A. A.

AU - Chvileva, A. S.

AU - Kurchenko, O. M.

AU - Smirnov, A. V.

AU - Yunusova, A. M.

AU - Kotov, I. N.

AU - Musatova, E. V.

AU - Pomerantseva, E. A.

AU - Volovikov, E. A.

AU - Lagarkova, M. A.

AU - Shnaider, T. A.

AU - Pristyazhnyuk, I. E.

N1 - Funding Information: The reported study was supported by project 121031800061-7 (Mechanisms of genetic control of development, physiological processes, and behavior in animals). Publisher Copyright: © 2021

PY - 2022/3

Y1 - 2022/3

N2 - The human induced pluripotent stem cell (iPSC) lines, iCS-MAF1-1 and iCS-MAF1-11, were generated from fibroblasts. The donor has a heterozygous mutation in the VPS13B gene, which manifests in her child as Cohen syndrome. It is a Golgi pathology, characterized by postnatal microcephaly and delayed growth and mental development. However, the process underlying pathological changes leading to the onset of the disease is still unknown. The use of iPSC will allow describing the early stages of neurogenesis, which is undoubtedly relevant for identifying key stages of development, at which phenotypic manifestations of mutations in the VPS13B gene are found.

AB - The human induced pluripotent stem cell (iPSC) lines, iCS-MAF1-1 and iCS-MAF1-11, were generated from fibroblasts. The donor has a heterozygous mutation in the VPS13B gene, which manifests in her child as Cohen syndrome. It is a Golgi pathology, characterized by postnatal microcephaly and delayed growth and mental development. However, the process underlying pathological changes leading to the onset of the disease is still unknown. The use of iPSC will allow describing the early stages of neurogenesis, which is undoubtedly relevant for identifying key stages of development, at which phenotypic manifestations of mutations in the VPS13B gene are found.

UR - http://www.scopus.com/inward/record.url?scp=85122531036&partnerID=8YFLogxK

U2 - 10.1016/j.scr.2021.102648

DO - 10.1016/j.scr.2021.102648

M3 - Article

C2 - 35026660

AN - SCOPUS:85122531036

VL - 59

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

M1 - 102648

ER -

ID: 35197435