Generation and genetic repair of 2 iPSC clones from a patient bearing a heterozygous c.1120del18 mutation in the ACVRL1 gene leading to Hereditary Hemorrhagic Telangiectasia (HHT) type 2

Autor: Marga J. Bouma, Valeria Orlova, Francijna E. van den Hil, Hans-Jurgen Mager, Frank Baas, Peter de Knijff, Christine L. Mummery, Harald Mikkers, Christian Freund

Publikováno v: Stem Cell Research, Vol 46, Iss , Pp 101786- (2020)

Fibroblasts from a patient carrying a heterozygous 18bp deletion in exon 8 of the ACVRL1 gene (c.1120del18) were reprogrammed using episomal vectors. The in-frame deletion in ACVRL1 causes the loss of 6 amino acids of the protein, which is associated

Externí odkaz: https://doaj.org/article/3068a223859c41b490e4ab2d56b63fb8

Differentiation-Defective Human Induced Pluripotent Stem Cells Reveal Strengths and Limitations of the Teratoma Assay and In Vitro Pluripotency Assays

Autor: Marga J. Bouma, Maarten van Iterson, Bart Janssen, Christine L. Mummery, Daniela C.F. Salvatori, Christian Freund

Publikováno v: Stem Cell Reports, Vol 8, Iss 5, Pp 1340-1353 (2017)

The ability to form teratomas in vivo containing multiple somatic cell types is regarded as functional evidence of pluripotency for human pluripotent stem cells (hPSCs). Since the Teratoma assay is animal dependent, laborious, and only qualitative, t

Externí odkaz: https://doaj.org/article/cec38419a6b14e2f9e09dcfd0e639772

Reprogramming Urine-Derived Cells using Commercially Available Self-Replicative RNA and a Single Electroporation

Autor: Marga J. Bouma, Christine L. Mummery, Christiaan H. Arendzen, Christian Freund, Harald Mikkers

Publikováno v: Current Protocols in Stem Cell Biology

We describe a protocol for efficient generation of human‐induced pluripotent stem cells (hiPSCs) from urine‐derived cells (UDCs) obtained from adult donors using self‐replicative RNA containing the reprogramming factors OCT3/4, SOX2, KLF4, GLIS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdb982b3100272b6f75a7a349fcd2914
https://pubmed.ncbi.nlm.nih.gov/32956580

Lymphoblast-derived hiPS cell lines generated from four individuals of a family of genetically unrelated parents and their female monozygotic twins

Autor: Karine Raymond, Christian Freund, Marga J. Bouma, Dorret I. Boomsma, Christine L. Mummery, Adriaan P. IJzerman

Publikováno v: Bouma, M J, Freund, C, IJzerman, A P, Boomsma, D I, Mummery, C L & Raymond, K 2019, ' Lymphoblast-derived hiPS cell lines generated from four individuals of a family of genetically unrelated parents and their female monozygotic twins ', Stem Cell Research, vol. 41, 101654, pp. 1-5 . https://doi.org/10.1016/j.scr.2019.101654
Stem Cell Research, 41, 101654
Stem Cell Research
Stem Cell Research, Elsevier, 2019, 41, pp.101654. ⟨10.1016/j.scr.2019.101654⟩
Stem Cell Research, 41. ELSEVIER
Stem Cell Research, Vol 41, Iss, Pp-(2019)
Stem Cell Research, 41:101654, 1-5. Elsevier
Stem Cell Research, 2019, 41, pp.101654. ⟨10.1016/j.scr.2019.101654⟩

Lymphoblast cells from four individuals of a family of two genetically unrelated parents and their monozygotic twins were used to generate integration-free human induced pluripotent stem cells (hiPSCs). Reprogramming factors were delivered by co-elec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16368e4144665ad97b31240a519c4979
https://research.vu.nl/en/publications/1991f48d-016f-4bff-b4cf-7251444e0f23

Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B

Autor: Bert Eussen, Christian Freund, Marga J. Bouma, Sarah L. Gardiner, Ronald A.M. Buijsen, Merel W. Boogaard, Barry A. Pepers, Linda M. van der Graaf, Willeke M. C. van Roon-Mom, Annelies de Klein

Publikováno v: Stem Cell Research, 29, 125-128. Elsevier Inc.
Stem Cell Research, Vol 29, Iss, Pp 125-128 (2018)
Stem Cell Research, 29, 125-128

Spinocerebellar ataxia type 1 (SCA1) is a hereditary neurodegenerative disease caused by a CAG repeat expansion in exon 8 of the ATXN1 gene. We generated induced pluripotent stem cells (hiPSCs) from a SCA1 patient and his non-affected sister by using

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2365faad3d2df3a340e53f6cc59c04f0
https://hdl.handle.net/1887/116614