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. 2017 Feb 16;8(3):519–528. doi: 10.1016/j.stemcr.2017.01.010

Figure 1.

Figure 1

Identification of 9p24.1 DUP/TRP and a Mar Chromosome in Two Patients with Psychotic Disorders

(A) Schematic of human chr 9, highlighting band 9p24.1, which contains the DUP/TRP region. Encoded genes are listed on the right; genes in the DUP region (red) and TRP region (blue) are indicated (GLDC is in the TRP region).

(B) From leukocytes, custom aCGH identified a CGR in the proband DL3363 (shown) and mother DL5459. This structural rearrangement, constituted by a DUP/TRP, spans 1.85 Mb.

(C) List of HF lines used in this study.

(D and E) Karyotype analysis of HF lines derived from the 9p24.1-carrier proband (DL3363) and mother (DL5459). Representative karyotype images of mar (M) (D) and percentage mosaicism (E) of HF lines derived from the 9p24.1-carrier proband (DL3363) and mother (DL5459). Red arrows indicate an additional t(1;18)(p22;q11.2) abnormality identified in 3/20 fibroblast cells (but not present in validated hiPSC lines).

(F and G) GLDC FISH analysis of HF lines derived from the 9p24.1-carrier proband (DL3363) and mother (DL5459). FISH images (600× magnification, images cropped and resized post capture) (F) from HFs from the proband (DL3363) (shown) and his mother (DL5459) with two (top), three (middle), and four (bottom) GLDC probes (red) within the DAPI-positive nucleus. Proportion of HF cells (G) with GLDC FISH probes in early passage (p5) and late passage (p20) from DL3363 and DL5459 (number of cells = 200 each, one assay per line).