Immortalization and Characterization of Bone Marrow Stromal Fibroblasts from a Patient with a Loss of Function Mutation in the Estrogen Receptor‐α Gene

• Published in: Journal of bone and mineral research Vol. 13; no. 4; pp. 598 - 608
• Main Authors: Dieudonné, S. C., Xu, T., Chou, J. Y., Kuznetsov, S. A., Satomura, K., Mankani, M., Fedarko, N. S., Smith, E. P., Robey, P. Gehron, Young, M. F.
• Format: Journal Article
• Language: English
• Published: Washington, DC John Wiley and Sons and The American Society for Bone and Mineral Research (ASBMR) 01.04.1998; American Society for Bone and Mineral Research
• Subjects: Adult; Alleles; Animals; Biological and medical sciences; Bone Development - genetics; Bone Marrow Cells - cytology; Cell Division; Cell Line; Cell metabolism, cell oxidation; Cell physiology; DNA, Complementary; Fibroblasts - cytology; Fundamental and applied biological sciences. Psychology; Hematopoiesis - genetics; Humans; Insulin-Like Growth Factor I - analysis; Interleukin-6 - analysis; Male; Mice; Molecular and cellular biology; Mutation - genetics; Osteogenesis - genetics; Receptors, Estrogen - genetics; Simian virus 40; Stromal Cells - cytology; Human; Cell culture; Cytokine; Estrogen; Cell immortalization; Insulin like growth factor 1; Metabolism; In vitro; Osteoarticular system; Interleukin 6; Established cell line; Bone marrow; Mutation; Bone; T antigen; Fibroblast; Hormonal receptor

A male patient with abnormal postpubertal bone elongation was shown earlier to have a mutation in both alleles of the estrogen receptor, resulting in a nonfunctional gene. Marrow stromal fibroblasts (MSFs) derived from this patient were called HERKOs (human estrogen receptor knock outs), and in orde...