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 |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
Black/African American
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,XY[19]
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
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 |
|
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 |
- |
|
|