Complementation group assignments in fanconi anemia fibroblast cell lines from North America

P. M. Jakobs, E. Fiddler-Odell, C. Reifsteck, Susan Olson, Robb Moses, Markus Grompe

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Fanconi anemia is a rare autosomal recessive disease characterized by developmental defects of the thumb and radius, childhood onset of pancytopenic anemia and increased risk of leukemia. At least five complementation groups (A-E) have been defined but only the FAC gene has been cloned. Cells can be assigned to complementation group C by direct mutation analysis. To facilitate the search for additional FA genes and to measure the frequency of complementation groups, we have established new genetically marked immortalized FA-A and FA-D fibroblast cell lines and show their usefulness as universal fusion donors. These reference FA cell lines facilitated somatic cell fusion analysis and enabled us to assign the complementation group in 16 unrelated FA patients from North America. The majority of patients, belong to FA complementation group A (69%), followed by FA-C (18%), FA-D (4%) and FA-B or FA-E (9%).

Original languageEnglish (US)
Pages (from-to)1-7
Number of pages7
JournalSomatic Cell and Molecular Genetics
Volume23
Issue number1
StatePublished - Jan 1997

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Fanconi Anemia
North America
Fibroblasts
Cell Line
Cell Fusion
Thumb
Genes
Anemia
Leukemia
Tissue Donors
Mutation

ASJC Scopus subject areas

  • Genetics
  • Cell Biology

Cite this

Complementation group assignments in fanconi anemia fibroblast cell lines from North America. / Jakobs, P. M.; Fiddler-Odell, E.; Reifsteck, C.; Olson, Susan; Moses, Robb; Grompe, Markus.

In: Somatic Cell and Molecular Genetics, Vol. 23, No. 1, 01.1997, p. 1-7.

Research output: Contribution to journalArticle

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