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  • Establishment of an iPSC cohort from three unrelated 47-XXY Klinefelter Syndrome patients (KAUSTi007-A, KAUSTi007-B, KAUSTi009-A, KAUSTi009-B, KAUSTi010-A, KAUSTi010-B).

Establishment of an iPSC cohort from three unrelated 47-XXY Klinefelter Syndrome patients (KAUSTi007-A, KAUSTi007-B, KAUSTi009-A, KAUSTi009-B, KAUSTi010-A, KAUSTi010-B).

Stem cell research (2020-10-18)
Maryam Alowaysi, Elisabetta Fiacco, Veronica Astro, Antonio Adamo
ABSTRACT

Klinefelter Syndrome (KS) is caused by the presence of a supernumerary X chromosome. Cytogenetic studies revaled that 80-90% of patients carry a 47-XXY karyotype, while 10-20% of cases are represented by mosaic 46-XY/47-XXY and high-grade aneuploidies 48-XXXY and 48-XXYY. The phenotypic traits of KS are highly variable across individuals and include cognitive dysfunction, metabolic dysregulation, osteoporosis, and cardiovascular diseases. Here, we describe the derivation of multiple 47-XXY iPSC lines from three unrelated KS patients to study the impact of supernumerary X chromosome during early development.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
Monoclonal Anti-SOX2 antibody produced in mouse, clone 10F10, ascites fluid
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100 μL
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A recombinant, preservative-free antibody is available for your target. Try ZRB1688
HUF 201,000.00
HUF 140,700.00
0.2 mL
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A recombinant, preservative-free antibody is available for your target. Try ZRB1688
HUF 266,000.00
HUF 133,000.00

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