Generation of an induced pluripotent stem cell line (DHMCi006-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a compound heterozygous missense mutation in the fibrocystin encoding PKHD1 gene
Mutations in the PKHD1 gene, encoding for the ciliary protein fibrocystin, play a major role in the cystogenesis in autosomal recessive polycystic kidney disease (ARPKD), a severe pediatric kidney disorder. Peripheral blood mononuclear cells (PBMCs) from a female patient carrying a compound heterozy...
| Hoofdauteurs: | , , , , , |
|---|---|
| Formaat: | Artikel |
| Taal: | English |
| Gepubliceerd in: |
Elsevier
2021-12-01
|
| Reeks: | Stem Cell Research |
| Online toegang: | http://www.sciencedirect.com/science/article/pii/S1873506121004268 |