Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations

Ching Chi Chiu; Hung Li Wang; Yi Hsin Weng; Rou Shayn Chen; Chiung Mei Chen; Tu Hsueh Yeh; Chin Song Lu; Yu Jie Chen; Yu Chuan Liu; Ying Zu Huang; Kuo Hsuan Chang

doi:10.1016/j.scr.2019.101552

Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations

Ching Chi Chiu, Hung Li Wang, Yi Hsin Weng, Rou Shayn Chen, Chiung Mei Chen, Tu Hsueh Yeh, Chin Song Lu, Yu Jie Chen, Yu Chuan Liu, Ying Zu Huang, Kuo Hsuan Chang

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3 Citations (Scopus)

Abstract

Mutations in PLA2G6 gene cause PLA2G6-associated neurodegeneration, including recessive familial type 14 of Parkinson's disease (PARK14). Previously, we identified PARK14 patients with compound heterozygous c.991G > T/c.1077G > A (p.D331Y/p.M358IfsX) mutations. The c.1077G > A mutation led to a four base-pairs deletion and frameshift mutation (p.M358IfsX) of PLA2G6 mRNA. We established induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of a female patient with compound heterozygous c.991G > T/c.1077G > A (p.D331Y/ p.M358IfsX) mutations by using Sendai-virus delivery system. The iPSCs exhibited pluripotency and in vivo differentiation potential. The iPSCs can be used for studying the molecular pathogenic mechanism of PARK14.

Original language	English
Article number	101552
Journal	Stem Cell Research
Volume	40
DOIs	https://doi.org/10.1016/j.scr.2019.101552
Publication status	Published - Oct 2019

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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Chiu, C. C., Wang, H. L., Weng, Y. H., Chen, R. S., Chen, C. M., Yeh, T. H., Lu, C. S., Chen, Y. J., Liu, Y. C., Huang, Y. Z., & Chang, K. H. (2019). Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations. Stem Cell Research, 40, [101552]. https://doi.org/10.1016/j.scr.2019.101552

@article{1676cb02cf914714a20f64adc6fa0f0f,

title = "Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations",

abstract = "Mutations in PLA2G6 gene cause PLA2G6-associated neurodegeneration, including recessive familial type 14 of Parkinson's disease (PARK14). Previously, we identified PARK14 patients with compound heterozygous c.991G > T/c.1077G > A (p.D331Y/p.M358IfsX) mutations. The c.1077G > A mutation led to a four base-pairs deletion and frameshift mutation (p.M358IfsX) of PLA2G6 mRNA. We established induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of a female patient with compound heterozygous c.991G > T/c.1077G > A (p.D331Y/ p.M358IfsX) mutations by using Sendai-virus delivery system. The iPSCs exhibited pluripotency and in vivo differentiation potential. The iPSCs can be used for studying the molecular pathogenic mechanism of PARK14.",

author = "Chiu, {Ching Chi} and Wang, {Hung Li} and Weng, {Yi Hsin} and Chen, {Rou Shayn} and Chen, {Chiung Mei} and Yeh, {Tu Hsueh} and Lu, {Chin Song} and Chen, {Yu Jie} and Liu, {Yu Chuan} and Huang, {Ying Zu} and Chang, {Kuo Hsuan}",

note = "Funding Information: This study was sponsored by grants from the Ministry of Science and Technology, Taiwan ( MOST 106-2314-B-182A-012 -MY3 , MOST 107-2221-E-182-001 , MOST107-2320-B-182-036-MY3 , MOST 106-2314-B-182 -037 -MY2 , MOST 108-2628-B-182 -003 ), Chang Gung Memorial Hospital, Taiwan ( CMRPG3J0761 , CMRPG3F1821 , CMRPD1H0282 , CMRPG3H0981 ) and Healthy Aging Research Center ( EMRPD1H0551 , EMRPD1H0381 ), Chang Gung University, Taiwan . Funding Information: This study was sponsored by grants from the Ministry of Science and Technology, Taiwan (MOST 106-2314-B-182A-012 -MY3, MOST 107-2221-E-182-001, MOST107-2320-B-182-036-MY3,MOST 106-2314-B-182 -037 -MY2, MOST 108-2628-B-182 -003), Chang Gung Memorial Hospital, Taiwan (CMRPG3J0761, CMRPG3F1821, CMRPD1H0282, CMRPG3H0981) and Healthy Aging Research Center (EMRPD1H0551, EMRPD1H0381), Chang Gung University, Taiwan. Publisher Copyright: {\textcopyright} 2019",

year = "2019",

month = oct,

doi = "10.1016/j.scr.2019.101552",

language = "English",

volume = "40",

journal = "Stem Cell Research",

issn = "1873-5061",

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T1 - Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations

AU - Chiu, Ching Chi

AU - Wang, Hung Li

AU - Weng, Yi Hsin

AU - Chen, Rou Shayn

AU - Chen, Chiung Mei

AU - Yeh, Tu Hsueh

AU - Lu, Chin Song

AU - Chen, Yu Jie

AU - Liu, Yu Chuan

AU - Huang, Ying Zu

AU - Chang, Kuo Hsuan

N1 - Funding Information: This study was sponsored by grants from the Ministry of Science and Technology, Taiwan ( MOST 106-2314-B-182A-012 -MY3 , MOST 107-2221-E-182-001 , MOST107-2320-B-182-036-MY3 , MOST 106-2314-B-182 -037 -MY2 , MOST 108-2628-B-182 -003 ), Chang Gung Memorial Hospital, Taiwan ( CMRPG3J0761 , CMRPG3F1821 , CMRPD1H0282 , CMRPG3H0981 ) and Healthy Aging Research Center ( EMRPD1H0551 , EMRPD1H0381 ), Chang Gung University, Taiwan . Funding Information: This study was sponsored by grants from the Ministry of Science and Technology, Taiwan (MOST 106-2314-B-182A-012 -MY3, MOST 107-2221-E-182-001, MOST107-2320-B-182-036-MY3,MOST 106-2314-B-182 -037 -MY2, MOST 108-2628-B-182 -003), Chang Gung Memorial Hospital, Taiwan (CMRPG3J0761, CMRPG3F1821, CMRPD1H0282, CMRPG3H0981) and Healthy Aging Research Center (EMRPD1H0551, EMRPD1H0381), Chang Gung University, Taiwan. Publisher Copyright: © 2019

PY - 2019/10

Y1 - 2019/10

N2 - Mutations in PLA2G6 gene cause PLA2G6-associated neurodegeneration, including recessive familial type 14 of Parkinson's disease (PARK14). Previously, we identified PARK14 patients with compound heterozygous c.991G > T/c.1077G > A (p.D331Y/p.M358IfsX) mutations. The c.1077G > A mutation led to a four base-pairs deletion and frameshift mutation (p.M358IfsX) of PLA2G6 mRNA. We established induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of a female patient with compound heterozygous c.991G > T/c.1077G > A (p.D331Y/ p.M358IfsX) mutations by using Sendai-virus delivery system. The iPSCs exhibited pluripotency and in vivo differentiation potential. The iPSCs can be used for studying the molecular pathogenic mechanism of PARK14.

AB - Mutations in PLA2G6 gene cause PLA2G6-associated neurodegeneration, including recessive familial type 14 of Parkinson's disease (PARK14). Previously, we identified PARK14 patients with compound heterozygous c.991G > T/c.1077G > A (p.D331Y/p.M358IfsX) mutations. The c.1077G > A mutation led to a four base-pairs deletion and frameshift mutation (p.M358IfsX) of PLA2G6 mRNA. We established induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells of a female patient with compound heterozygous c.991G > T/c.1077G > A (p.D331Y/ p.M358IfsX) mutations by using Sendai-virus delivery system. The iPSCs exhibited pluripotency and in vivo differentiation potential. The iPSCs can be used for studying the molecular pathogenic mechanism of PARK14.

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Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations

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