| 1. |
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
- Azevedo, Carla, et al.
(författare)
-
Generation of an induced pluripotent stem cell line (CSC-32) from a patient with Parkinson's disease carrying a heterozygous variation p.A53T in the SNCA gene
- 2020
-
Ingår i: Stem Cell Research. - : Elsevier BV. - 1873-5061. ; 43
-
Tidskriftsartikel (refereegranskat)abstract
- Here, we describe the generation of an induced pluripotent stem cell (iPSC) line, from a male patient diagnosed with Parkinson's disease (PD). The patient carries a heterozygous variation p.A53T in the SNCA gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated iPSC line (CSC-32) preserved the mutation, displayed expression of common pluripotency markers, differentiated into derivatives of the three germ layers, and exhibited a normal karyotype. The clone CSC-32B is presented thereafter; it can be used to study the mechanisms underlying PD pathogenesis.
|
|
| 5. |
|
|
| 6. |
- Benetó, Noelia, et al.
(författare)
-
Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome
- 2019
-
Ingår i: Stem Cell Research. - : Elsevier BV. - 1876-7753 .- 1873-5061. ; 41
-
Tidskriftsartikel (refereegranskat)abstract
- Sanfilippo C syndrome (Mucopolysaccharidosis IIIC) is a rare lysosomal storage disorder caused by mutations in the HGSNAT gene. It is characterized by a progressive and severe neurodegeneration, for which there is no treatment available. Here, we report the generation of two HGSNAT-mutated cell lines from a healthy human induced pluripotent stem cell (hiPSC) line using CRISPR/Cas9 editing. These novel cell lines have a normal karyotype, express pluripotency specific markers and have the capability to differentiate into all three germ layers in vitro. These hiPSC lines will be useful for the generation of in vitro models of Sanfilippo C syndrome.
|
|
| 7. |
|
|
| 8. |
- Bergmann, Olaf, et al.
(författare)
-
Cardiac regeneration in vivo: Mending the heart from within?
- 2014
-
Ingår i: Stem Cell Research. - : Elsevier BV. - 1876-7753 .- 1873-5061. ; 13:3, s. 523-531
-
Forskningsöversikt (refereegranskat)abstract
- A growing body of evidence has shown that the heart is not terminally differentiated but continues to renew its cardiomyocytes even after the neonatal period. This new view of the heart increases hope for changing the strategy for treating cardiac injuries toward regenerative approaches. However, the magnitude and clinical significance of this process in homeostasis and disease and the underlying cellular and molecular mechanisms have been heavily debated. Numerous candidates for so-called cardiac stem cells (CSCs) have been proposed, but the different characteristics of these candidates make it difficult to identify the inherent source of regeneration. In this review, we revisit the field of cardiac stem cells and endogenous regeneration to elaborate how these fields may contribute to future regenerative strategies.
|
|
| 9. |
- Bergqvist, Cecilia, et al.
(författare)
-
An inner nuclear membrane protein induces rapid differentiation of human induced pluripotent stem cells
- 2017
-
Ingår i: Stem Cell Research. - : Elsevier BV. - 1873-5061 .- 1876-7753. ; 23, s. 33-38
-
Tidskriftsartikel (refereegranskat)abstract
- The ability of iPSCs (induced pluripotent stem cells) to generate any cell type in the body makes them valuable tools for cell replacement therapies. However, differentiation of iPSCs can be demanding, slowand variable. During differentiation chromatin is re-organized and silent dense heterochromatin becomes tethered to the nuclear periphery by processes involving the nuclear lamina and proteins of the INM(inner nuclearmembrane). The INM protein, Samp1 (Spindle AssociatedMembrane Protein 1) interacts with Lamin A/C and the INMprotein Emerin, which has a chromatin binding LEM(Lap2-Emerin-Man1)-domain. In this paperweinvestigate if Samp1 can play a role in the differentiation of iPSCs. Samp1 levels increased as differentiating iPSCs started to express Lamin A/C. Interestingly, even under pluripotent culturing conditions, ectopic expression of Samp1 induced a rapid differentiation of iPSCs, ofwhich some expressed the neuronal marker beta III-tubulin already after 6 days. This suggests that Samp1 is involved in early differentiation of iPSCs and could potentially be explored as a tool to promote progression of the differentiation process.
|
|
| 10. |
|
|
