medRxiv : the preprint server for health sciences · 2025
Somatic and Stem Cell Bank to Study the Contribution of African Ancestry to Dementia: African iPSC Initiative.
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Maina Mahmoud B, Isah Murtala B, Marsh Jacob A, Muhammad Zaid, Babazau Larema, Idris Abdulrahman Alkhamis, Aladyeva Ekaterina, Miller Nadia, Starr Emma, Miller Katherine J, Lee Scott, Minaya Miguel, Wray Selina, Harari Oscar, Goni Baba W, Serpell Louise C, Karch Celeste M
Аннотация
INTRODUCTION: Africa, home to 1.4 billion people and the highest genetic diversity globally, harbors unique genetic variants crucial for understanding complex diseases like neurodegenerative disorders. However, African populations remain underrepresented in induced pluripotent stem cell (iPSC) collections, limiting the exploration of population-specific disease mechanisms and therapeutic discoveries.
METHODS: To address this gap, we established an open-access African Somatic and Stem Cell Bank.
RESULTS: In this initial phase, we generated 10 rigorously characterized iPSC lines from fibroblasts representing five Nigerian ethnic groups and both sexes. These lines underwent extensive profiling for pluripotency, genetic stability, differentiation potential, and Alzheimer's disease and Parkinson's disease risk variants. CRISPR/Cas9 technology was used to introduce frontotemporal dementia-associated MAPT mutations (P301L and R406W).
DISCUSSION: This collection offers a renewable, genetically diverse resource to investigate disease pathogenicity in African populations, facilitating breakthroughs in neurodegenerative research, drug discovery, and regenerative medicine.
METHODS: To address this gap, we established an open-access African Somatic and Stem Cell Bank.
RESULTS: In this initial phase, we generated 10 rigorously characterized iPSC lines from fibroblasts representing five Nigerian ethnic groups and both sexes. These lines underwent extensive profiling for pluripotency, genetic stability, differentiation potential, and Alzheimer's disease and Parkinson's disease risk variants. CRISPR/Cas9 technology was used to introduce frontotemporal dementia-associated MAPT mutations (P301L and R406W).
DISCUSSION: This collection offers a renewable, genetically diverse resource to investigate disease pathogenicity in African populations, facilitating breakthroughs in neurodegenerative research, drug discovery, and regenerative medicine.