Journal: Life Science Alliance

Article Title: CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow

doi: 10.26508/lsa.202402708

Figure Lengend Snippet: (A) Western blot of fibroblast cell line lysates from control, and Family#1 father, female patient, and male patient. The affected patient cell lines did not show detectable CC2D1A expression. (B, C) Quantification of fibroblast starvation–induced ciliary length. The patients displayed fewer ciliated cells or shorter ciliary lengths. ns, not significant; P < 0.01 (**), P < 0.0001 (****). (D, E, F) Cultured and starved fibroblasts from Family#1 father, female patient, and male patient stained with DAPI (blue) to show nuclei, phalloidin, Alexa Fluor 488 (green) to show actin cytoskeleton, and anti-acetylated tubulin (red) to show ciliary axonemes. Cilia on the patient fibroblasts were less frequent and shorter than those on the control and father fibroblasts. Scale bar = 25 μm. Source data are available for this figure.

Article Snippet: The fibroblasts were cultured for ∼4 wk until enough fibroblast outgrowth had occurred to allow for additional cell passage (amphotericin B [J67049.AD; Thermo Fisher Scientific], DMEM [#21068028; Gibco], L-glutamine [#25030081; Gibco], sodium pyruvate [#11360070; Gibco], penicillin–streptomycin [#10378016; Gibco], FBS [#10270-106; Gibco]).

Techniques: Western Blot, Control, Expressing, Cell Culture, Staining