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 |
|
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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White
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|
Country of Origin
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USA
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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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Molecular characterization after cell line submission to CCR
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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 |
6.38 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| 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 |
Macro-orchidism; mental retardation; 46,fra(X)(q27),Y in PBL, 2% in fibroblasts; positive family history; affected male by Southern analysis |
| Edwards N, Combrinck C, McCaughey-Chapman A, Connor B, Directly reprogrammed fragile X syndrome dorsal forebrain precursor cells generate cortical neurons exhibiting impaired neuronal maturation Frontiers in cellular neuroscience17:1254412 2023 |
| PubMed ID: 37810261 |
| |
| Susco SG, Ghosh S, Mazzucato P, Angelini G, Beccard A, Barrera V, Berryer MH, Messana A, Lam D, Hazelbaker DZ, Barrett LE, Molecular convergence between Down syndrome and fragile X syndrome identified using human pluripotent stem cell models Cell reports40:111312 2022 |
| PubMed ID: 36070702 |
| |
| Nakayama Y, Adachi K, Shioda N, Maeta S, Nanba E, Kugoh H, Establishment of FXS-A9 panel with a single human X chromosome from fragile X syndrome-associated individual Experimental cell research398:112419 2021 |
| PubMed ID: 33296661 |
| |
| Gray SJ, Gerhardt J, Doerfler W, Small LE, Fanning E, An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene Molecular and cellular biology27:426-37 2006 |
| PubMed ID: 17101793 |
| |
| Hansen RS, Canfield TK, Fjeld AD, Mumm S, Laird CD, Gartler SM, A variable domain of delayed replication in FRAXA fragile X chromosomes: X inactivation-like spread of late replication. Proc Natl Acad Sci U S A94:4587-92 1997 |
| PubMed ID: 9114034 |
| |
| Howard-Peebles PN, Pryor JC, Fragile sites in human chromosomes I. The effect of methionine on the Xq fragile site. Clin Genet19:228-32 1981 |
| PubMed ID: 6944163 |
| |
| Howard-Peebles PN, Fragile sites in human chromosomes II: demonstration of the fragile site Xq27 in carriers of X-linked mental retardation. Am J Med Genet7:497-501 1980 |
| PubMed ID: 6938133 |
| |
| Howard-Peebles PN, Stoddard GR, Familial X-linked mental retardation with a marker X chromosome and its relationship to macro-orchidism. Clin Genet17:125-8 1980 |
| PubMed ID: 6928810 |
| Passage Frozen |
6 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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