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. 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
Journal Stem cell research
Publication Date 2022 Aug 30;64:102905
PubMed 36070637
DOI 10.1016/j.scr.2022.102905

Research Projects

Cell Lines