Human embryonic stem cell lines with genetic disorders

Yury Verlinsky, N. Strelchenko, V. Kukharenko, S. Rechitsky, O. Verlinsky, V. Galat, Anver Kuliev*

*Corresponding author for this work

Research output: Contribution to journalArticle

182 Scopus citations


A previous study described the establishment of human embryonic stem cell (ESC) lines from different source of embryonic material, including morula, whole blastocyst and isolated inner cell mass. Using these methods, a repository of ESC lines has been established with different genetic abnormalities, which provides an unlimited source of disease cells in culture for undertaking research on the primary disturbances of the cellular processes in the genetically abnormal cells. ESC lines with genetic disorders were derived from the mutant embryos detected and avoided from transfer in the ongoing practice of preimplantation genetic diagnosis (PGD). The current repository contains 18 ESC lines with genetic disorders, including adrenoleukodystrophy, Duchenne and Becker muscular dystrophy, Fanconi anaemia, complementation group A, fragile-X syndrome, Huntington disease (three lines), Marfan syndrome, myotonic dystrophy, (two lines), neurofibromatosis type I (five lines) and thalassaemia (two lines). These ESC lines are presently used for research purpose and may be available on request.

Original languageEnglish (US)
Pages (from-to)105-110
Number of pages6
JournalReproductive biomedicine online
Issue number1
StatePublished - Jan 1 2005


  • ESC line with genetic disorders
  • Embryonic stem cells (ESC)
  • Preimplantation genetic diagnosis
  • Repository of human ESC lines
  • Single gene disorders

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology
  • Developmental Biology

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