PKD1 c.1597C>T ;(p.Q533*)

Variant ID: 16-2166843-G-A

NM_001009944.2(PKD1):c.1597C>T;(p.Q533*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Review on kidney diseases: types, treatment and potential of stem cell therapy.

Renal Replacement Therapy
Singh, Jaspreet J; Singh, Sanjeev S
Publication Date: 2023

Variant appearance in text: PKD1: Q533X
PubMed Link: 37131920
Variant Present in the following documents:
  • 41100_2023_Article_475.pdf
View BVdb publication page



Opportunities and Challenges of Human IPSC Technology in Kidney Disease Research.

Biomedicines
Lee, Jia-Jung JJ; Lin, Chuang-Yu CY; Chen, Hung-Chun HC; Hsieh, Patrick C H PCH; Chiu, Yi-Wen YW; Chang, Jer-Ming JM
Publication Date: 2022-12-12

Variant appearance in text: PKD1: Q533X
PubMed Link: 36551987
Variant Present in the following documents:
  • biomedicines-10-03232.pdf
View BVdb publication page



Human iPSC banking: barriers and opportunities.

Journal Of Biomedical Science
Huang, Ching-Ying CY; Liu, Chun-Lin CL; Ting, Chien-Yu CY; Chiu, Yueh-Ting YT; Cheng, Yu-Che YC; Nicholson, Martin W MW; Hsieh, Patrick C H PCH
Publication Date: 2019-10-28

Variant appearance in text: PKD1: Q533X
PubMed Link: 31660969
Variant Present in the following documents:
  • 12929_2019_Article_578.pdf
View BVdb publication page



Primary cardiac manifestation of autosomal dominant polycystic kidney disease revealed by patient induced pluripotent stem cell-derived cardiomyocytes.

Ebiomedicine
Lee, Jia-Jung JJ; Cheng, Sin-Jhong SJ; Huang, Ching-Ying CY; Chen, Chen-Yun CY; Feng, Li L; Hwang, Daw-Yang DY; Kamp, Timothy J TJ; Chen, Hung-Chun HC; Hsieh, Patrick C H PCH
Publication Date: 2019-02

Variant appearance in text: PKD1: Q533X
PubMed Link: 30639418
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page