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

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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.

Original language	English
Journal	Stem Cell Research
Volume	16
Issue number	3
Pages (from-to)	553-556
Number of pages	4
ISSN	1873-5061
DOIs	https://doi.org/10.1016/j.scr.2016.02.040
Publication status	Published - May 2016

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Cite this

@article{b246e7c12dc644a4b9bd4b2faf0b6bd1,

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",

year = "2016",

month = may,

doi = "10.1016/j.scr.2016.02.040",

language = "English",

volume = "16",

pages = "553--556",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

number = "3",

}

TY - JOUR

T1 - Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11

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

PY - 2016/5

Y1 - 2016/5

N2 - 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.

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.

U2 - 10.1016/j.scr.2016.02.040

DO - 10.1016/j.scr.2016.02.040

M3 - Journal article

C2 - 27346190

SN - 1873-5061

VL - 16

SP - 553

EP - 556

JO - Stem Cell Research

JF - Stem Cell Research

IS - 3

ER -