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 4. Analysis of patient II-2 bone marrow. (A) Experimental setup: Bone marrow mononuclear cells were isolated by gradient centrifugation from patient II-2 and healthy control, analyzed by FACS and either plated in colony forming unit assays (see Figure 5) or transplanted into NSG females (see Figure 6). (B) Bone marrow characteristics at time of sampling. (C) FACS plots showing CD34 and CD38 levels gated on live, lineage-negative cells. Gates show frequencies of CD34+ cells in percent.