Description:
FRAGILE X MENTAL RETARDATION SYNDROME
FMR1 GENE; FMR1
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Chromosome Abnormalities |
Class |
Disorders with Trinucleotide Expansions |
Class |
X Chromosome Markers |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Country of Origin
|
USA
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
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 2021 |
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 2020 |
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 |
- |
|
|