Project description:We have generated CRISPR edited versions of hESC line MShef11 to produce MFN2 R94Q/+ and MFN2 R94Q/R94Q lines as a model for Charcot Marie Tooth Disease (CMT) 2A. This were differentiated to limb innervating motor neurons, the predominantly affected cell time in CMT2A and RNA was examined to investigate differences in cell lines.
Project description:Transcriptional profiling of PKHD1-KO and PKHD1-Hetero CCs. PKHD1-deficient (PKHD1-KO) and heterozygously mutated PKHD1 iPS clones were established by RNA-guided genome editing using CRISPR/Cas9 system. The iPS clones were differentiated into cholangiocyte-like cells in cysts (cholangiocytic cysts, CCs) in a 3D-culture system.
Project description:The Mfn2 gene was conditionally knock-out from male mice germ cells using Stra8-Cre mice. The spermatocytes were collected from PD 24 and PD 52 male mice, and were further isolated as pachytene cells (P) and leptotene/zygotene cells (L/Z). The transcriptome between MFN2 WT and MFN2 cKO spermatocytes were analyzed via RNA-seq in P and L/Z populations at different ages, PD 24 amd PD 52, respectively.
Project description:Mitofusin 2 (MFN2) mutations previously associated with axonal neuropathy have recently been found in patients with upper body overgrowth of adipose tissue. RNA-seq was performed on two of these patients with biallelic MFN2 mutations. The transcriptome demonstrated increased mitochondrial stress signaling, increased cell survive and decreased cell death signatures, and increased protein synthesis.