GM06912
LCL from B-Lymphocyte
Description:
FRAGILE X MENTAL RETARDATION SYNDROME
FMR1 GENE; FMR1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Disorders with Trinucleotide Expansions |
| Class |
X Chromosome Markers |
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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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Black/African American
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Family Member
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1
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Relation to Proband
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proband
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| X CHROMOSOME FRAGILE SITE |
Pieretti et al (Cell 66:817-822,1991) reported that there was no detectable expression of the gene, FMR-1, that is expressed in brain at the fragile X locus in this lymphoblast culture established from a male with fragile X syndrome. |
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| Gene |
FMR1 |
| Chromosomal Location |
Xq27.3 |
| Allelic Variant 1 |
309550.0004; FRAGILE X MENTAL RETARDATION SYNDROME |
| Identified Mutation |
(CGG)n EXPANSION; The usual cause of the fragile X syndrome is an expanded (CGG)n repeat in the 5-prime noncoding region of the FMR1 gene. |
| Remarks |
Ment retard & hyperactivity; 3 aff male cousins & 1 aff female cousin; pos for fra(X) in PBL; in lymph cult, 16% of cells are pos with FudR & 8% pos with methotrexate; neg for FMR-1 gene expression; aff male by Southern analysis |
| Suganuma T, Workman JL, MPTAC links alkylation damage signaling to sterol biosynthesis Redox biology51:102270 2021 |
| PubMed ID: 35189552 |
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| Rafi SK, Surana RB, Anderson LH, Wilson B, Christopher KL, Mehm WJ, Effects of hyperoxia and caffeine on the expression of fragile site at Xq27.3. Am J Med Genet61:299-303 1996 |
| PubMed ID: 8834039 |
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| Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL, Absence of expression of the FMR-1 gene in fragile X syndrome. Cell66:817-22 1991 |
| PubMed ID: 1878973 |
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| Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, et al, Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell65:905-14 1991 |
| PubMed ID: 1710175 |
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| Vincent A, Heitz D, Petit C, Kretz C, Oberle I, Mandel JL, Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. Nature349:624-6 1991 |
| PubMed ID: 1672039 |
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| Sherman SL, Jacobs PA, Morton NE, Froster-Iskenius U, Howard-Peebles PN, Nielsen KB, Partington MW, Sutherland GR, Turner G, Watson M, Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet69:289-99 1985 |
| PubMed ID: 3838733 |
| 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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