Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11

Susanne Kofoed Hansen; Helena Borland; Lis Frydenreich Hasholt; Zeynep Tümer; Jørgen Erik Nielsen; Mikkel A. Rasmussen; Troels Tolstrup Nielsen; Tina C. Stummann; Karina Fog; Poul Hyttel

doi:10.1016/j.scr.2016.02.040

Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11

Susanne Kofoed Hansen, Helena Borland, Lis Frydenreich Hasholt, Zeynep Tümer, Jørgen Erik Nielsen, Mikkel A. Rasmussen, Troels Tolstrup Nielsen, Tina C. Stummann, Karina Fog, Poul Hyttel

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

4 Citationer (Scopus)

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Abstract

Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a CAG-repeat expanding mutation in ATXN3. We generated induced pluripotent stem cells (iPSCs) from a SCA3 patient by electroporation of dermal fibroblasts with episomal plasmids encoding L-MYC, LIN28, SOX2, KLF4, OCT4 and short hairpin RNA targeting P53. The resulting iPSCs had normal karyotype, were free of genomically integrated episomal plasmids, expressed pluripotency markers, could differentiate into the three germ layers in vitro and retained the disease-causing ATXN3 mutation. This iPSC line could be useful for the investigation of SCA3 disease mechanisms.

Originalsprog	Engelsk
Tidsskrift	Stem Cell Research
Vol/bind	16
Udgave nummer	3
Sider (fra-til)	553-556
Antal sider	4
ISSN	1873-5061
DOI	https://doi.org/10.1016/j.scr.2016.02.040
Status	Udgivet - maj 2016

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10.1016/j.scr.2016.02.040Licens: CC BY-NC-ND

Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11Forlagets udgivne version, 564 KBLicens: CC BY-NC-ND

Citationsformater

Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11. / Hansen, Susanne Kofoed; Borland, Helena ; Hasholt, Lis Frydenreich ; Tümer, Zeynep ; Nielsen, Jørgen Erik; Rasmussen, Mikkel A.; Nielsen, Troels Tolstrup; Stummann, Tina C.; Fog, Karina; Hyttel, Poul.

I: Stem Cell Research, Bind 16, Nr. 3, 05.2016, s. 553-556.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Hansen, Susanne Kofoed ; Borland, Helena ; Hasholt, Lis Frydenreich ; Tümer, Zeynep ; Nielsen, Jørgen Erik ; Rasmussen, Mikkel A. ; Nielsen, Troels Tolstrup ; Stummann, Tina C. ; Fog, Karina ; Hyttel, Poul. / Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11. I: Stem Cell Research. 2016 ; Bind 16, Nr. 3. s. 553-556.

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title = "Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11",

abstract = "Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a CAG-repeat expanding mutation in ATXN3. We generated induced pluripotent stem cells (iPSCs) from a SCA3 patient by electroporation of dermal fibroblasts with episomal plasmids encoding L-MYC, LIN28, SOX2, KLF4, OCT4 and short hairpin RNA targeting P53. The resulting iPSCs had normal karyotype, were free of genomically integrated episomal plasmids, expressed pluripotency markers, could differentiate into the three germ layers in vitro and retained the disease-causing ATXN3 mutation. This iPSC line could be useful for the investigation of SCA3 disease mechanisms.",

author = "Hansen, {Susanne Kofoed} and Helena Borland and Hasholt, {Lis Frydenreich} and Zeynep T{\"u}mer and Nielsen, {J{\o}rgen Erik} and Rasmussen, {Mikkel A.} and Nielsen, {Troels Tolstrup} and Stummann, {Tina C.} and Karina Fog and Poul Hyttel",

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AU - Hansen, Susanne Kofoed

AU - Borland, Helena

AU - Hasholt, Lis Frydenreich

AU - Tümer, Zeynep

AU - Nielsen, Jørgen Erik

AU - Rasmussen, Mikkel A.

AU - Nielsen, Troels Tolstrup

AU - Stummann, Tina C.

AU - Fog, Karina

AU - Hyttel, Poul

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AB - Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a CAG-repeat expanding mutation in ATXN3. We generated induced pluripotent stem cells (iPSCs) from a SCA3 patient by electroporation of dermal fibroblasts with episomal plasmids encoding L-MYC, LIN28, SOX2, KLF4, OCT4 and short hairpin RNA targeting P53. The resulting iPSCs had normal karyotype, were free of genomically integrated episomal plasmids, expressed pluripotency markers, could differentiate into the three germ layers in vitro and retained the disease-causing ATXN3 mutation. This iPSC line could be useful for the investigation of SCA3 disease mechanisms.

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DO - 10.1016/j.scr.2016.02.040

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