Work

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

Year: 2026

Type: preprint

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’s 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.

Source: bioRxiv (Cold Spring Harbor Laboratory)

DOI: 10.64898/2026.08.29.747981

Authors: Weronika Przybala, Swapnil Gupta, Hege Brincker Fjerdingstad, Per Selnes, Kulbhushan Sharma

Institutions: University of Oslo, Akershus University Hospital

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: Akershus Universitetssykehus