Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations
Summary
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. Published by Elsevier B.V.
| Authors | Wu K, Takanohashi A, Woidill S, Seylani A, Helman G, Dias P, Beers J, Lin Y, Simons C, Wolvetang E, Zou J, Vanderver A, Sack MN |
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| Journal | Stem cell research |
| Publication Date | 2022 Oct;64:102905 |
| PubMed | 36070637 |
| DOI | 10.1016/j.scr.2022.102905 |