Description:
FRAGILE X MENTAL RETARDATION SYNDROME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Disorders with Trinucleotide Expansions |
| Class |
X Chromosome Markers |
| Alternate IDs |
GM17104 [FRAGILE X MENTAL RETARDATION SYNDROME] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
Black/African American
|
|
Family Member
|
5
|
|
Relation to Proband
|
maternal cousin
|
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Normal functioning and development; 1 affected brother; 4 affected cousins; son of GM06863B; negative for fra(X) in PBL; normal male by Southern analysis |
| Dolskiy AA, Yarushkin AA, Grishchenko IV, Lemskaya NA, Pindyurin AV, Boldyreva LV, Pustylnyak VO, Yudkin DV, miRNA expression and interaction with the 3'UTR of FMR1 in FRAXopathy pathogenesis Non-coding RNA research6:1-7 2020 |
| PubMed ID: 33426406 |
| |
| Kumari D, Sciascia N, Usdin K, Small Molecules Targeting H3K9 Methylation Prevent Silencing of Reactivated Genes11:1-7 2020 |
| PubMed ID: 32230785 |
| |
| 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 |
| |
| Greene E, Mahishi L, Entezam A, Kumari D, Usdin K, Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia Nucleic acids research35:3383-90 2007 |
| PubMed ID: 17478498 |
| |
| 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 |
|
|