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Series GSE67938 Query DataSets for GSE67938
Status Public on Aug 05, 2015
Title Germline duplication of ATG2B and GSKIP predisposes to familial essential thrombocythemia rapidly progressing to acute leukemia
Organism Homo sapiens
Experiment type Genome variation profiling by array
Summary No major predisposing gene for familial myeloproliferative neoplasms (MPN) has been identified. Here, we demonstrate that the autosomal dominant transmission of a 700 kb duplication in four geographically-related families predisposes to MPN rapidly progressing to acute leukemia. Using induced pluripotent stem and primary cells to explore hematopoietic differentiation, we demonstrate that overexpressed ATG2B and GSKIP enhance hematopoietic progenitor differentiation, including megakaryocytic through increasing their sensitivity to TPO. ATG2B and GSKIP cooperate with acquired JAK2, MPL and CALR mutations during MPN development. Thus, the germline duplication changes the fitness of cells harboring signaling mutations and increases the probability of disease development.
Overall design 14 samples corresponding to iPSC and control cases (Cy5) where hybridized in dual color against commercial normal reference DNA (Cy3) of matched sex, except for samples with unknown gender for which male normal was used as reference.
Contributor(s) Saliba J, Saint-Martin C, Di Stefano A, Lenglet G, Marty C, Keren B, Pasquier F, Della Valle V, Secardin L, Leroy G, Mahfoudhi E, Grosjean S, Droin N, Diop KM, Charrier S, Palazzo A, Merlevede J, Mediane J, Delaunay-Darivon C, Fuseau P, Isnard F, Casadevall N, Solary E, Debili N, Bernard OA, Raslova H, Najman A, Vainchenker W, Bellanné-Chantelot C, Plo I
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Submission date Apr 15, 2015
Last update date Mar 21, 2017
Contact name Bastien Job
Phone +330142114211
Organization name Institut Gustave Roussy
Lab Bioinformatics Core Facility
Street address 39 rue Camille Desmoulins
ZIP/Postal code 94800
Country France
Platforms (1)
GPL9777 Agilent-021850 SurePrint G3 Human CGH Microarray (Feature Number version)
Samples (14)
GSM1659015 IPSC predisposition +JAK2V617F clone a
GSM1659016 IPSC predisposition only clone a
GSM1659017 Control IPSC clone a
BioProject PRJNA281252

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE67938_RAW.tar 609.6 Mb (http)(custom) TAR (of TXT)
Processed data included within Sample table

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