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Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations.

Stem cell research - 1 Oct 2022

Wu Kaiyuan, Takanohashi Asako, Woidill Sarah, Seylani Allen, Helman Guy, Dias Patricia, Beers Jeanette, Lin Yongshun, Simons Cas, Wolvetang Ernst, Zou Jizhong, Vanderver Adeline, Sack Michael N

Abstract excerpt

Genetic studies show that BLOC1S1 modulates mitochondrial and endosome-lysosome function (Wu et al., 2021a). Furthermore, Bloc1s1 mutations are linked to leukodystrophy (Bertoli-Avella et al., 2021). The Vanderver laboratory identified additional individuals with leukodystrophy that harbored either complex heterozygous (Bloc1s1 c.206A > C and c.359G > A), or homozygous (Bloc1s1 c.185 T > C) point mutations. We...

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PMID: 36070637
DOI: 10.1016/j.scr.2022.102905

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