Derivation of DM2 affected human embryonic stem cell line Genea066

Area of Science:

• Stem cell biology
• Genetics
• Reproductive medicine

Background:

• Human embryonic stem cells (hESCs) are crucial for regenerative medicine and disease modeling.
• Myotonic Dystrophy Type 2 (DM2) is a genetic disorder caused by CCTG repeat expansions in the ZNF9 gene.
• Establishing well-characterized hESC lines is essential for research.

Purpose of the Study:

• To derive and characterize a novel human embryonic stem cell line from a blastocyst carrying a genetic predisposition for Myotonic Dystrophy Type 2.
• To confirm the genetic status and pluripotent potential of the established hESC line.

Main Methods:

• Derivation of hESC line (Genea066) from an ART blastocyst with confirmed ZNF9 gene expansion.
• Karyotyping and Short Tandem Repeat (STR) analysis for genetic confirmation.
• Assessment of pluripotency markers (Nanog, Oct4, Tra1-60, SSEA4) and Pluritest.
• Mycoplasma and contamination testing.

Main Results:

• The Genea066 hESC line was successfully derived and maintained.
• Karyotype confirmed as 46, XY, with a male allele pattern via STR analysis.
• High expression of pluripotency markers (Nanog, Oct4, Tra1-60, SSEA4) and a Pluritest score of 31.3.
• The cell line tested negative for Mycoplasma and contamination.

Conclusions:

• The Genea066 hESC line is a novel, genetically characterized XY pluripotent stem cell line.
• This cell line carries the genetic hallmark of Myotonic Dystrophy Type 2, offering potential for disease research.
• The established line meets quality standards for pluripotency and is free from common contaminants.