Chronic myeloid leukemia (CML) is caused by the dysregulated tyrosine kinase activity of the BCR-ABL fusion protein. In this study, we generated induced pluripotent stem cells (iPSCs) with a normal karyotype, using cells from a patient with CML and a Philadelphia chromosome. These human iPSCs showed positive pluripotency markers and differentiated into three germ layers. This iPSC line can be useful for the study of CML, namely the biology of hematopoietic stem cells with normal karyotype in CML, and for the development of patient-specific immunological treatment.
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http://dx.doi.org/10.1016/j.scr.2021.102465 | DOI Listing |
J Dent Sci
January 2025
Research Institute, Ballys Co. Ltd, Incheon, Republic of Korea.
Background/purpose: Pulp polyp is often eliminated as dental waste. Pulp polyp cells were reported to have high proliferation activity which might be comprised of stem cells. However, little has been known on the presence of stem cells in the pulp polyp.
View Article and Find Full Text PDFFront Genet
January 2025
Department of Laboratory, The Second People's Hospital of Yibin City, Yibin, Sichuan, China.
Objective: This study aims to assess the diagnostic efficacy of a combined approach integrating chromosomal karyotyping, copy number variation sequencing (CNV-seq), and quantitative fluorescence polymerase chain reaction (QF-PCR) in detecting chromosomal abnormalities in high-risk pregnancies.
Methods: This retrospective study analyzed 617 high-risk pregnancies undergoing prenatal diagnosis from February 2023 to August 2024, with amniotic fluid samples concurrently analyzed using karyotyping, CNV-seq, and QF-PCR. We evaluated clinical characteristics, diagnostic yields, and inter-method concordance rates.
Endocrinol Diabetes Metab Case Rep
January 2025
Summary: Short stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children. This is true for hormone abnormalities including growth hormone deficiency, hypothyroidism and glucocorticoid excess.
View Article and Find Full Text PDFSudan J Paediatr
January 2024
Elite Center for Genetics Diagnosis, Khartoum, Sudan.
Trisomy 22 is a rare autosomal constitutional chromosomal disorder with high survival incompatibility being the third most frequent trisomy in spontaneous abortions and accounting for 10%-15% of all cases. Mosaic trisomy 22 is a less severe variant of the disorder associated with mild phenotype and longer lifespan compared to cases with complete trisomy 22. To date, there have only been 25 reported cases of trisomy 22 worldwide.
View Article and Find Full Text PDFStem Cell Res
January 2025
Department of Orthopedic Surgery, The First Affiliated Hospital of Shandong First Medical University, Ji'nan 250014 Shandong, China; Biomedical Sciences College, Shandong Medicinal Biotechnology Centre, Shandong First Medical University& Shandong Academy of Medical Sciences, Ji'nan 250062 Shandong, China; Key Lab for Biotech-Drugs of National Health Commission, Ji'nan 250062 Shandong, China; Key Lab for Rare & Uncommon Diseases of Shandong Province, Ji'nan 250062 Shandong, China. Electronic address:
Fabry disease (FD) is a systemic disease in which globotriaosylceramide and other naturally occurring glycosphingolipid accumulate in various tissues throughout the body due to mutation of α-galactosidase A (GLA). These induced pluripotent stem cells (iPSCs) were generated from a 10-year-old male patient's urine carrying the GLA c.1080_1082del Fabry disease mutation.
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