Description:
FRAGILE X MENTAL RETARDATION SYNDROME
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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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Cell Type
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Fibroblast
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Transformant
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Untransformed
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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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ISCN
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46,XY[19]
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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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| PDL at Freeze |
4.53 |
| Passage Frozen |
9 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Remarks |
Seizures; macro-orchidism; mental retardation; 52% 46,fra(X)(q27),Y in leukocytes; 4% in fibroblasts using FudR; G6PD type A in blood; see GM04025E Lymphoid |
| Sun JH, Zhou L, Emerson DJ, Phyo SA, Titus KR, Gong W, Gilgenast TG, Beagan JA, Davidson BL, Tassone F, Phillips-Cremins JE, Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries Cell175:224-238.e15 2018 |
| PubMed ID: 30173918 |
| |
| Drouin R, Angers M, Dallaire N, Rose TM, Khandjian W, Rousseau F, Structural and functional characterization of the human FMR1 promoter reveals similarities with the hnRNP-A2 promoter region. Hum Mol Genet6:2051-60 1997 |
| PubMed ID: 9328468 |
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| Howard-Peebles PN, Stoddard GR, Race distribution in X-linked mental retardation with macro-orchidism and fragile site in Xq [letter] Am J Hum Genet32:629-30 1980 |
| PubMed ID: 6930822 |
| Passage Frozen |
9 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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