Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations
oleh: 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
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2022-10-01 |
Deskripsi
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.