Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome

Yu Ting Wu; Yu Hung Hsu; Ching Ying Huang; Ming Ching Ho; Yu Che Cheng; Cheng Hao Wen; Hui Wen Ko; Huai En Lu; Yen Chun Chen; Chia Ling Tsai; Yi Chao Hsu; Yau Huei Wei; Patrick C.H. Hsieh

doi:10.1016/j.scr.2017.12.013

Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome

Yu Ting Wu, Yu Hung Hsu, Ching Ying Huang, Ming Ching Ho, Yu Che Cheng, Cheng Hao Wen, Hui Wen Ko, Huai En Lu, Yen Chun Chen, Chia Ling Tsai, Yi Chao Hsu^*, Yau Huei Wei, Patrick C.H. Hsieh

^*Corresponding author for this work

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

12 Scopus citations

Abstract

Mitochondrial defects are associated with clinical manifestations from common diseases to rare genetic disorders. Myoclonus epilepsy associated with ragged-red fibers (MERRF) syndrome results from an A to G transition at nucleotide position 8344 in the tRNA^Lys gene of mitochondrial DNA (mtDNA) and is characterized by myoclonus, myopathy and severe neurological symptoms. In this study, Sendai reprogramming method was used to generate an iPS cell line carrying the A8344G mutation of mtDNA from a MERRF patient. This patient-specific iPSC line expressed pluripotent stem cell markers, possessed normal karyotype, and displayed the capability to differentiate into mature cells in three germ layers.

Original language	English
Pages (from-to)	10-14
Number of pages	5
Journal	Stem Cell Research
Volume	27
DOIs	https://doi.org/10.1016/j.scr.2017.12.013
State	Published - 03 2018
Externally published	Yes

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Publisher Copyright:
© 2017

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10.1016/j.scr.2017.12.013

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Wu, Y. T., Hsu, Y. H., Huang, C. Y., Ho, M. C., Cheng, Y. C., Wen, C. H., Ko, H. W., Lu, H. E., Chen, Y. C., Tsai, C. L., Hsu, Y. C., Wei, Y. H., & Hsieh, P. C. H. (2018). Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome. Stem Cell Research, 27, 10-14. https://doi.org/10.1016/j.scr.2017.12.013

@article{e140520d79964eed90b155e48c0415a6,

title = "Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome",

abstract = "Mitochondrial defects are associated with clinical manifestations from common diseases to rare genetic disorders. Myoclonus epilepsy associated with ragged-red fibers (MERRF) syndrome results from an A to G transition at nucleotide position 8344 in the tRNALys gene of mitochondrial DNA (mtDNA) and is characterized by myoclonus, myopathy and severe neurological symptoms. In this study, Sendai reprogramming method was used to generate an iPS cell line carrying the A8344G mutation of mtDNA from a MERRF patient. This patient-specific iPSC line expressed pluripotent stem cell markers, possessed normal karyotype, and displayed the capability to differentiate into mature cells in three germ layers.",

author = "Wu, {Yu Ting} and Hsu, {Yu Hung} and Huang, {Ching Ying} and Ho, {Ming Ching} and Cheng, {Yu Che} and Wen, {Cheng Hao} and Ko, {Hui Wen} and Lu, {Huai En} and Chen, {Yen Chun} and Tsai, {Chia Ling} and Hsu, {Yi Chao} and Wei, {Yau Huei} and Hsieh, {Patrick C.H.}",

note = "Publisher Copyright: {\textcopyright} 2017",

year = "2018",

month = mar,

doi = "10.1016/j.scr.2017.12.013",

language = "英语",

volume = "27",

pages = "10--14",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier B.V.",

}

Wu, YT, Hsu, YH, Huang, CY, Ho, MC, Cheng, YC, Wen, CH, Ko, HW, Lu, HE, Chen, YC, Tsai, CL, Hsu, YC, Wei, YH & Hsieh, PCH 2018, 'Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome', Stem Cell Research, vol. 27, pp. 10-14. https://doi.org/10.1016/j.scr.2017.12.013

Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome. / Wu, Yu Ting; Hsu, Yu Hung; Huang, Ching Ying et al.
In: Stem Cell Research, Vol. 27, 03.2018, p. 10-14.

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

TY - JOUR

T1 - Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome

AU - Wu, Yu Ting

AU - Hsu, Yu Hung

AU - Huang, Ching Ying

AU - Ho, Ming Ching

AU - Cheng, Yu Che

AU - Wen, Cheng Hao

AU - Ko, Hui Wen

AU - Lu, Huai En

AU - Chen, Yen Chun

AU - Tsai, Chia Ling

AU - Hsu, Yi Chao

AU - Wei, Yau Huei

AU - Hsieh, Patrick C.H.

PY - 2018/3

Y1 - 2018/3

N2 - Mitochondrial defects are associated with clinical manifestations from common diseases to rare genetic disorders. Myoclonus epilepsy associated with ragged-red fibers (MERRF) syndrome results from an A to G transition at nucleotide position 8344 in the tRNALys gene of mitochondrial DNA (mtDNA) and is characterized by myoclonus, myopathy and severe neurological symptoms. In this study, Sendai reprogramming method was used to generate an iPS cell line carrying the A8344G mutation of mtDNA from a MERRF patient. This patient-specific iPSC line expressed pluripotent stem cell markers, possessed normal karyotype, and displayed the capability to differentiate into mature cells in three germ layers.

AB - Mitochondrial defects are associated with clinical manifestations from common diseases to rare genetic disorders. Myoclonus epilepsy associated with ragged-red fibers (MERRF) syndrome results from an A to G transition at nucleotide position 8344 in the tRNALys gene of mitochondrial DNA (mtDNA) and is characterized by myoclonus, myopathy and severe neurological symptoms. In this study, Sendai reprogramming method was used to generate an iPS cell line carrying the A8344G mutation of mtDNA from a MERRF patient. This patient-specific iPSC line expressed pluripotent stem cell markers, possessed normal karyotype, and displayed the capability to differentiate into mature cells in three germ layers.

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DO - 10.1016/j.scr.2017.12.013

M3 - 文章

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AN - SCOPUS:85039435711

SN - 1873-5061

VL - 27

SP - 10

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JO - Stem Cell Research

JF - Stem Cell Research

ER -

Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome

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