A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition

Clemens Stockklausner; Simon Raffel; Julia Klermund; Obul Reddy Bandapalli; Fabian Beier; Tim H. Brümmendorf; Friederike Bürger; Sven W. Sauer; Georg F. Hoffmann; Holger Lorenz; Laura Tagliaferri; Daniel Nowak; Wolf-Karsten Hofmann; Rebecca Buergermeister; Carolin Kerber; Tobias Rausch; Jan O. Korbel; Brian Luke; Andreas Trumpp; Andreas E. Kulozik

doi:doi:10.18632/aging.100835

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Research Paper Volume 7, Issue 11 pp 911—927

A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition

Figure 6. Xenotransplantation experiments. (A-C) Frequencies of human engraftment with respect to lineage differentiation in bone marrow (A), spleen (B) and peripheral blood (C) 90 days after transplantation of patient II-2 or healthy bone marrow. Mice were treated either with rapamycin or placebo. n=2 per condition in healthy donor, n=1 per condition in patient (D) Representative FACS plots depicting human (h)CD45 versus mouse (ms)CD45 for blood cell chimerism (upper panel), human (h)CD19 for lymphoid differentiation and human (h)CD33 for myeloid differentiation (middle panel) and human (h)CD3 for T cell expansion. Upper panel is gated on live cells, middle and lower panels are gated on live, hCD45+ cells. Numbers represent percentage of gated events.