Stem Cell Research (Oct 2022)

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

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

Journal volume & issue
Vol. 64
p. 102905

Abstract

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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.