Fig. 1.

Lipid droplets abnormal storage in different tissues of NLSDM patient 1, compared to a control subject.

(A) Buffy coats stained with May-Grünwald-Giemsa (arrow indicates Jordans' anomaly in the granulocyte of patient 1). Magnification: 100 ×.

(B) Phase contrast images of primary dermal fibroblasts obtained from a control subject and NLSDM patient (patient 1) whose fibroblasts were used to produce iPS cells. Arrows indicate abnormal TAGs accumulation in the NLSDM fibroblasts. Magnification: 40 ×.

(C) Direct sequencing of PNPLA2 gene confirmed the presence of mutations in the two disease-specific iPSC lines (c.541delAC and c.662G > C respectively).