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PreprintCC BYbioRxiv

Generation and characterization of a patient-specific human induced pluripotent stem cell line from a Skogholt syndrome patient (ASCFi003-A)

  • W. Przybyla
  • S. Gupta
  • H. B. Fjerdingstad
  • P. Selnes
  • K. Sharma1
  1. 1University of Oslo, Ahus Campus
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Abstract

We report the generation and characterization of a human induced pluripotent stem cell (iPSC) line derived from dermal fibroblasts of a patient with Skogholt disease, a rare maternally inherited neurodegenerative syndrome associated with choroid plexus dysfunction and impaired cerebrospinal fluid (CSF) homeostasis. Patient fibroblasts were reprogrammed using the non-integrating Repro-OSKGM kit. The resulting iPSC line exhibited typical pluripotent morphology, expressed canonical pluripotency markers, maintained a normal karyotype, retained the disease-associated genetic variant, was mycoplasma-free, and demonstrated trilineage differentiation potential. We also made choroid plexus (ChP) like organoids from the generated iPSCs. This patient-specific iPSC line provides a valuable resource for generating choroid plexus organoids and neurons to investigate disease mechanisms and develop therapeutic strategies.

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Cite

BibTeXRIS
BibTeX
@misc{przybyla2026generation,
  title = {{Generation and characterization of a patient-specific human induced pluripotent stem cell line from a Skogholt syndrome patient (ASCFi003-A)}},
  author = {W. Przybyla and S. Gupta and H. B. Fjerdingstad and P. Selnes and K. Sharma},
  howpublished = {bioRxiv},
  year = {2026},
  month = aug,
  doi = {10.64898/2026.08.29.747981},
  url = {https://www.biorxiv.org/content/10.64898/2026.08.29.747981v1},
  note = {CC BY},
}
RIS
TY  - UNPB
TI  - Generation and characterization of a patient-specific human induced pluripotent stem cell line from a Skogholt syndrome patient (ASCFi003-A)
AU  - W. Przybyla
AU  - S. Gupta
AU  - H. B. Fjerdingstad
AU  - P. Selnes
AU  - K. Sharma
PY  - 2026
DA  - 2026/08/29
PB  - bioRxiv
DO  - 10.64898/2026.08.29.747981
UR  - https://www.biorxiv.org/content/10.64898/2026.08.29.747981v1
AB  - We report the generation and characterization of a human induced pluripotent stem cell (iPSC) line derived from dermal fibroblasts of a patient with Skogholt disease, a rare maternally inherited neurodegenerative syndrome associated with choroid plexus dysfunction and impaired cerebrospinal fluid (CSF) homeostasis. Patient fibroblasts were reprogrammed using the non-integrating Repro-OSKGM kit. The resulting iPSC line exhibited typical pluripotent morphology, expressed canonical pluripotency markers, maintained a normal karyotype, retained the disease-associated genetic variant, was mycoplasma-free, and demonstrated trilineage differentiation potential. We also made choroid plexus (ChP) like organoids from the generated iPSCs. This patient-specific iPSC line provides a valuable resource for generating choroid plexus organoids and neurons to investigate disease mechanisms and develop therapeutic strategies.
ER  -