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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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Skeletal muscle
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Cell Type
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Myoblast
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Tissue Type
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Muscle
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Transformant
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Untransformed
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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 |
GM17869 |
| 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 |
| PDL at Senescence |
18 |
| PDL at Freeze |
1 |
| Passage Frozen |
1 |
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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. |
Phenotypic Data
| Remark |
Clinically affected; culture derived from an orthopedic scapular fixation of scapular and subscapularis muscle; 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; at the CCR 68% of the cells at passage 2 tested positive for the myoblast-specific marker Desmin; as cited in Tam et al [J Cell Biol 167:269-279 (2004)], 50% of the cells in this culture tested positive for the cell surface marker (5.1H11) expressed in myoblasts and myotubes, 25% were positive for the muscle marker myoD, 17% fused into multinucleated myotubes six days after shifting to differentiation medium, and 47% were lacking the fibroblast-specific marker AS02; cells showed some cell death during myotube differentiation; this culture is a mixture of myoblasts and fibroblasts; myoblasts predominate upon recovery, but fibroblasts take over with increasing passage; lifespan reached 18 population doublings at senescence; a lymphoblast culture from this same donor is GM17868 |
Publications
| Tam R, Smith KP, Lawrence JB, The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres. J Cell Biol167(2):269-79 2004 |
| PubMed ID: 15504910 |
Culture Protocols
| PDL at Senescence |
18 |
| PDL at Freeze |
1 |
| Passage Frozen |
1 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Ham's F10 with 2mM L-glutamine |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
Gelatin |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
Basic Fibroblast Growth Factor 20ng/ml |
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