Generation of four human induced pluripotent stem cell lines derived from patients with MPAN, subtype of NBIA, carrying the c.204_214del11 mutation in the C19orf12 gene

• DOI: 10.1016/j.scr.2024.103603
• Publication Date: 2024-10-30T03:45:59Z
• Authors: Ewelina Krogulec; Aneta M. Dobosz; Ewa Liszewska; Lena Majchrowicz; Agnieszka Dobrzyń
• Keywords: QH301-705.5; Biology (General)

Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurodegenerative diseases characterized by iron accumulation in the brain. Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a subtype of NBIA caused by an autosomal recessive mutation in the C19orf12 gene. In this work, we generated and characterized four lines of human induced pluripotent stem cell (hiPSCs) derived from dermal fibroblasts of patients carrying homozygous mutation c.204_214del11, p.(Gly69Argfs*10) in the C19orf12 gene. The mechanism of the disease is still far from clear, therefore the hiPSC cell lines will be a suitable model for studying NBIA-MPAN neurodegeneration.