GM06968
LCL from B-Lymphocyte
Description:
FRAGILE X MENTAL RETARDATION SYNDROME
FMR1 GENE; FMR1
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases Chromosome Abnormalities |
Class |
Disorders with Trinucleotide Expansions |
Class |
X Chromosome Markers |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
JEWISH
|
Family Member
|
2
|
Relation to Proband
|
mother
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
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 |
|
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
|
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 |
Obligate carrier; clinically normal; 1% of PBL show fra(X) with FudR or MTX; affected uncle and nephew; father is a normal "carrier"; son is positive for fra (X); Proband is GM07071 Fibroblast; carrier of premutation by Southern analysis; CGG repeats are 107 and 32. |
Suganuma T, Workman JL, MPTAC links alkylation damage signaling to sterol biosynthesis Redox biology51:102270 2021 |
PubMed ID: 35189552 |
|
O'Connell CD, Atha DH, Jakupciak JP, Amos JA, Richie K, Standardization of PCR amplification for fragile X trinucleotide repeat measurements. Clin Genet61(1):13-20 2002 |
PubMed ID: 11903349 |
|
Howard-Peebles PN, Friedman JM, Unaffected carrier males in families with fragile X syndrome. Am J Hum Genet37:956-64 1985 |
PubMed ID: 3863482 |
Split Ratio |
1:5 |
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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