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Fig. 1 | Stem Cell Research & Therapy

Fig. 1

From: Generation of special autosomal dominant polycystic kidney disease iPSCs with the capability of functional kidney-like cell differentiation

Fig. 1

Genotyping of the special ADPKD family in this study. (a) Family pedigree. *Members with a missense mutation c.17G > A, p. Arg6His in PKD2. (b) Diagnostic ultrasonogram of the representative affected person (TSB) and normal person (TSG). (c) Upstream deletions of the ASTN1 and SAMSN1 genes identified in patient TSB by comparative genomic hybridization microarray technology. (d) List of all 11 CNVs in the genomes of TSB cells compared to TSG cells. (e) qPCR analysis of the ASTN1 gene expression in ADPKD patients and healthy persons. Data presented as mean ± standard deviation from three independent sets of experiments. (f) qPCR analysis of SAMSN1 expression in ADPKD patients and healthy persons. Data presented as mean ± standard deviation from three independent sets of experiments. *P < 0.05. ADPKD autosomal dominant polycystic kidney disease, TTB, TSB, THB, TLL, TII, TXM, TSG, TLY, LTP, TDS names of family members (Color figure online)

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