Description:
STICKLER SYNDROME, TYPE I; STL1
COLLAGEN, TYPE II, ALPHA-1; COL2A1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from LCL
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
COL2A1 |
| Chromosomal Location |
12q13.11-q13.2 |
| Allelic Variant 1 |
; Stickler Syndrome |
| Identified Mutation |
3892delT |
| Remarks |
Clinically affected; see GM22829 Fibroblast; donor subject is heterozygous for a 1 bp deletion at nucleotide 3892 in exon 50 of the COL2A1 gene (c.3892delT) |
| Gene Cards |
COL2A1 |
| Gene Ontology |
GO:0001501 skeletal development |
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GO:0005201 extracellular matrix structural constituent |
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GO:0005581 collagen |
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GO:0005584 collagen type I |
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GO:0005585 collagen type II |
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GO:0005737 cytoplasm |
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GO:0006817 phosphate transport |
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GO:0007605 perception of sound |
| NCBI Gene |
Gene ID:1280 |
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Gene ID:315 |
| NCBI GTR |
108300 STICKLER SYNDROME, TYPE I; STL1 |
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120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1 |
| OMIM |
108300 STICKLER SYNDROME, TYPE I; STL1 |
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120140 COLLAGEN, TYPE II, ALPHA-1; COL2A1 |
| Omim Description |
ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOMSTICKLER SYNDROME, TYPE III, INCLUDED; STL3, INCLUDED |
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STICKLER SYNDROME, TYPE I; STL1 |
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