Figure 5.

Derivation and Characterization of Citrullinemia-Specific hiPSCs

(A) Morphology of WT iPSC, CTLN iPSC-1, and CTLN iPSC-2.

(B) Sequence analysis of ASS1 exon15 mutations in healthy and patient-derived fibroblasts and the iPSCs.

(C) PCR-based integration analysis of the episomal reprogramming vectors.

(D) Karyotype analysis of WT iPSC, CTLN iPSC-1, and CTLN iPSC-2.

(E) Immunofluorescence images of iPSCs stained for NANOG, OCT4, and SSEA-4. Cell nuclei were counterstained with Hoechst. Scale bars, 100 μm.

(F) mRNA expression levels of pluripotency-related genes.

(G) Western blot for ASS1 using two independent antibodies in WT iPSCs, CTLN1 iPSC-overexpressing GFP, or ASS1 cDNA (OE).

(H) Teratoma formation of CTLN iPSC-1 and CTLN iPSC-2 in SCID mice. Scale bars, 100 μm.