Generation of an isogenic human induced pluripotent stem cell line for spinocerebellar ataxia type 1

Laurie M. C. Kerkhof; Barry A. Pepers; Linda M. van der Graaf; Angela Santiago-Aranda; Bas J. B. Voesenek; Eric A. J. Reits; Ronald A. M. Buijsen; Willeke M. C. van Roon-Mom

doi:10.1016/j.scr.2026.103987

Generation of an isogenic human induced pluripotent stem cell line for spinocerebellar ataxia type 1

Laurie M. C. Kerkhof^*
, Barry A. Pepers
, Linda M. van der Graaf
, Angela Santiago-Aranda
, Bas J. B. Voesenek
, Eric A. J. Reits
, Ronald A. M. Buijsen
, Willeke M. C. van Roon-Mom

^*Corresponding author for this work

Leiden University
Amsterdam UMC

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

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Abstract

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by an expanded CAG repeat in exon 8 of the ATXN1 gene. In this study, an isogenic human induced pluripotent stem (hiPS) cell SCA1 line was generated using CRISPR/Cas9 genome editing. Characterization revealed an expanded repeat containing 54 CAG repeats in one allele and an unmodified second allele. The isogenic hiPS cell line showed a typical hiPS cell morphology, expressed pluripotency markers and was able to differentiate into all three germ layers.

Original language	English
Article number	103987
Journal	Stem Cell Res.
Volume	94
DOIs	https://doi.org/10.1016/j.scr.2026.103987
Publication status	Published - 1 Aug 2026

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title = "Generation of an isogenic human induced pluripotent stem cell line for spinocerebellar ataxia type 1",

abstract = "Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by an expanded CAG repeat in exon 8 of the ATXN1 gene. In this study, an isogenic human induced pluripotent stem (hiPS) cell SCA1 line was generated using CRISPR/Cas9 genome editing. Characterization revealed an expanded repeat containing 54 CAG repeats in one allele and an unmodified second allele. The isogenic hiPS cell line showed a typical hiPS cell morphology, expressed pluripotency markers and was able to differentiate into all three germ layers.",

author = "Kerkhof, \{Laurie M. C.\} and Pepers, \{Barry A.\} and \{van der Graaf\}, \{Linda M.\} and Angela Santiago-Aranda and Voesenek, \{Bas J. B.\} and Reits, \{Eric A. J.\} and Buijsen, \{Ronald A. M.\} and \{van Roon-Mom\}, \{Willeke M. C.\}",

note = "Publisher Copyright: {\textcopyright} 2026 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license. http://creativecommons.org/licenses/by/4.0/",

year = "2026",

month = aug,

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doi = "10.1016/j.scr.2026.103987",

language = "English",

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journal = "Stem Cell Res.",

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T1 - Generation of an isogenic human induced pluripotent stem cell line for spinocerebellar ataxia type 1

AU - Kerkhof, Laurie M. C.

AU - Pepers, Barry A.

AU - van der Graaf, Linda M.

AU - Santiago-Aranda, Angela

AU - Voesenek, Bas J. B.

AU - Reits, Eric A. J.

AU - Buijsen, Ronald A. M.

AU - van Roon-Mom, Willeke M. C.

PY - 2026/8/1

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N2 - Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by an expanded CAG repeat in exon 8 of the ATXN1 gene. In this study, an isogenic human induced pluripotent stem (hiPS) cell SCA1 line was generated using CRISPR/Cas9 genome editing. Characterization revealed an expanded repeat containing 54 CAG repeats in one allele and an unmodified second allele. The isogenic hiPS cell line showed a typical hiPS cell morphology, expressed pluripotency markers and was able to differentiate into all three germ layers.

AB - Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by an expanded CAG repeat in exon 8 of the ATXN1 gene. In this study, an isogenic human induced pluripotent stem (hiPS) cell SCA1 line was generated using CRISPR/Cas9 genome editing. Characterization revealed an expanded repeat containing 54 CAG repeats in one allele and an unmodified second allele. The isogenic hiPS cell line showed a typical hiPS cell morphology, expressed pluripotency markers and was able to differentiate into all three germ layers.

UR - https://www.scopus.com/pages/publications/105036225514

U2 - 10.1016/j.scr.2026.103987

DO - 10.1016/j.scr.2026.103987

M3 - Article

C2 - 42000542

SN - 1873-5061

VL - 94

JO - Stem Cell Res.

JF - Stem Cell Res.

M1 - 103987

ER -

Generation of an isogenic human induced pluripotent stem cell line for spinocerebellar ataxia type 1

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