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

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 generated induced pluripotential stem cell (iPSC) lines from these subjects, from parents of the complex heterozygous mutations patient, and from CRISPR isogenic (c.206A > C and c.359G > A) corrected iPSC-line. These complex heterozygous, homozygous, and isogenic-corrected Bloc1s1 lines were phenotypically normal and were capable of differentiation towards the three germ layers.
Competing Interests: Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Adeline Vanderver reports financial support was provided by Eli Lilly and Company. Adeline Vanderver reports financial support was provided by Biogen. Adeline Vanderver reports financial support was provided by Takeda Pharmaceuticals America Inc. Adeline Vanderver reports financial support was provided by Homology Medicines Inc. Adeline Vanderver reports financial support was provided by Passage Bio, Inc. Adeline Vanderver reports financial support was provided by Illumina Inc. Adeline Vanderver reports financial support was provided by PMD FOundation.
(Published by Elsevier B.V.)