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Updated: Mar 18, 2026
Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
Published on: December 10, 2021
Derivation of Huntington Disease affected Genea091 human embryonic stem cell line
Biljana Dumevska1, Julia Schaft1, Robert McKernan1
1Genea Biocells, Sydney, Australia.
Insights
A new human embryonic stem cell line, Genea091, was created from a blastocyst with Huntington Disease-linked gene expansion. This characterized pluripotent cell line is suitable for research into Huntington
Area of Science:
- Stem cell biology
- Genetics
- Neurodegenerative diseases
Background:
- Huntington Disease (HD) is a neurodegenerative disorder caused by CAG repeat expansion in the Huntingtin (Htt) gene.
- Human embryonic stem cells (hESCs) offer a valuable model for studying genetic diseases.
- Development of disease-specific hESC lines is crucial for understanding disease mechanisms and therapeutic development.
Purpose of the Study:
- To derive and characterize a novel human embryonic stem cell (hESC) line from a blastocyst carrying the Htt gene CAG expansion indicative of Huntington Disease.
- To confirm the genetic and pluripotent status of the derived hESC line for its utility in disease modeling.
Main Methods:
- Derivation of hESC line (Genea091) from a donated ART blastocyst with confirmed Htt gene CAG expansion (40 repeats).
- Karyotyping (CGH) 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 Genea091 hESC line was successfully derived from an ART blastocyst with 40 Htt gene CAG repeats.
- Karyotype confirmed as 46, XX; STR analysis indicated a female pattern.
- High expression of pluripotency markers (Nanog, Oct4, Tra1-60, SSEA4) and a Pluritest score of 38.36 were observed.
- The cell line tested negative for Mycoplasma and contamination.
Conclusions:
- The Genea091 hESC line is a genetically confirmed, pluripotent, and authenticated resource.
- This novel hESC line carrying the Huntington Disease mutation provides a valuable model for studying the disease.
- Genea091 is suitable for research aimed at understanding Huntington Disease pathogenesis and developing potential therapies.
Abstract:
The Genea091 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying Htt gene CAG expansion of 40 repeats, indicative of Huntington Disease. Following ICM outgrowth on inactivated human feeders, karyotype was confirmed as 46, XX by CGH and STR analysis demonstrated a female Allele pattern. The hESC line had pluripotent cell morphology, 92% of cells expressed Nanog, 97% Oct4, 79% Tra1-60 and 98% SSEA4 and gave a Pluritest pluripotency score of 38.36, Novelty of 1.35. The cell line was negative for Mycoplasma and visible contamination.
