GM23622
LCL from B-Lymphocyte
Description:
DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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5
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Family History
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N
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Relation to Proband
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cousin
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Suspected diagnosis; molecular confirmation testing has not been performed. Subject noticed progressive myopathy onset in her legs at age 40; difficulty climbing hills and stairs; difficulty kneeling and then standing up; unable to run; slight atrophy of distal quadriceps and left buttock; weak neck flexors and deltoids bilaterally; slight waddling gait; fatigue; history of jaw fracture with normal healing; CK at age 45 slightly elevated (250 ng/mL); EMG was normal. Family history: subject’s father had weakness in his arms and legs in his thirties and also had fractures of his femurs; subject’s paternal grandfather had similar arm and leg weakness, but no fractures. Subject has two sons; one son has had three fractures. Neither son has any muscle weakness; subject is the sister of GM23621 (Fibroblast) and cousin of GM23613; see GM23623 for fibroblast line from this subject. |
| Camacho-Vanegas O, Camacho SC, Till J, Miranda-Lorenzo I, Terzo E, Ramirez MC, Schramm V, Cordovano G, Watts G, Mehta S, Kimonis V, Hoch B, Philibert KD, Raabe CA, Bishop DF, Glucksman MJ, Martignetti JA, Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts American journal of human genetics90:614-27 2011 |
| PubMed ID: 22464254 |
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| Mehta SG, Watts GD, McGillivray B, Mumm S, Hamilton SJ, Ramdeen S, Novack D, Briggs C, Whyte MP, Kimonis VE, Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy American journal of medical genetics Part A140:322-30 2006 |
| PubMed ID: 16419137 |
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| Watts GD, Mehta SG, Zhao C, Ramdeen S, Hamilton SJ, Novack DV, Mumm S, Whyte MP, Mc Gillivray B, Kimonis VE, Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome Human genetics118:508-14 2005 |
| PubMed ID: 16244874 |
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| HENRY EW, AUCKLAND NL, McINTOSH HW, STARR DE, Abnormality of the long bones and progressive muscular dystrophy in a family Canadian Medical Association journal78:331-6 1958 |
| PubMed ID: 13511301 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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