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Overview
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Collection
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Inherited Disorders |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Sample Description |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A (FSHD)
FSHD GENE 1; FRG1 |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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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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Age At Sampling
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21 YR
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Sex
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Female
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Race
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Caucasian
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Family
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2220
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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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Clinically Affected
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Yes
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Confirmation
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Clinical summary/Case history
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Remarks
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| Catalog ID |
GM17868 |
| Product |
Cell Culture |
| Pricing |
Commercial Pricing: $85.00
Academic and not-for-profit pricing: $85.00 |
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How to Order
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Online Ordering
Assurance Form (Must have current form on file)
Statement of Research Intent Form (Information will be entered electronically when order is placed. DO NOT fax form to Coriell Customer Service)
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Characterizations
| Sample Description |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A (FSHD)
FSHD GENE 1; FRG1 |
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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 |
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| Gene |
FRG1 |
| Chromosomal Location |
4q35 |
| Allelic Variant 1 |
; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A |
| Identified Mutation |
D4Z4 REPEATS ON CHROMOSOME 4q35 (<10); Almost all patients with FSHD carry deletions of an integral number of tandem 3.3-kb repeats, termed D4Z4, on chromosome 4q35. Gabellini et al. (2002) found that in FSHD muscle, genes located upstream of D4Z4 on 4q35, including FRG1 (601278), FRG2 (609032), and ANT1 (103220), are inappropriately overexpressed. They showed that an element within D4Z4 specifically binds a multiprotein complex that mediates transcriptional repression of 4q35 genes. Gabellini et al. (2002) proposed that deletion of D4Z4 leads to the inappropriate transcriptional derepression of 4q35 genes, resulting in disease. |
| DNA Profile |
| D10S526 |
234, 238 |
| D22S417 |
181, 185 |
| D5S592 |
178, 182 |
| FES/FPS |
224, 224 |
| THO-1 |
159, 163 |
| VWA31 |
149, 153 |
Phenotypic Data
| Remark |
Clinically affected; four year history of gradual increased pain and decreased function of shoulders leading to a left scapular fusion; D4Z4 repeats for this donor subject are as follows: 4q35: 5/31 (clinically unaffected individuals usually have >10 D4Z4 repeats on both alleles at chromosome 4q35) and 10q26: 5/39 copies; a myoblast culture from this same donor is GM17869 |
Culture Protocols
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
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