GM21814
LCL from B-Lymphocyte
Description:
EHLERS-DANLOS SYNDROME, TYPE II; EDS2
COLLAGEN, TYPE V, ALPHA-1; COL5A1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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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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LCL from B-Lymphocyte
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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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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 |
COL5A1 |
| Chromosomal Location |
9q34.2-q34.3 |
| Allelic Variant 1 |
S530G; EHERLS-DANLOS SYNDROME, TYPE II |
| Identified Mutation |
SER530GLY |
| Remarks |
Clinically affected; pain in ankles and wrists; weak arms; joint pain and swelling in knees; beaked nose; corrected overbite; mild micrognathia; high palate; high myopia; right pupil larger than left; spleen tip palpable; soft mildly extensible skin; cigarette paper scars; poor wound healing; bruising; mild lower scoliosis; lumbar lordosis; hyperextension of all limbs and joints tested; pes planus; Beighton score 8/9; three bladder surgeries to correct incontinence; minimal disc buldging at L3-L4; L4 hemangioma; see GM21815 Fibroblast; donor subject has an A>G transition in exon 16 of the COL5A1 gene resulting in the substitution of glycine for serine at codon 530 [Ser530Gly (S530G)] |
| Gene Cards |
COL5A1 |
| Gene Ontology |
GO:0005201 extracellular matrix structural constituent |
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GO:0005581 collagen |
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GO:0005588 collagen type V |
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GO:0005737 cytoplasm |
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GO:0006817 phosphate transport |
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GO:0007155 cell adhesion |
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GO:0008201 heparin binding |
| NCBI Gene |
Gene ID:1289 |
| NCBI GTR |
120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1 |
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130010 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2; EDSCL2 |
| OMIM |
120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1 |
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130010 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2; EDSCL2 |
| Omim Description |
EDS II |
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EHLERS DANLOS SYMDROME, MITIS TYPE |
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EHLERS-DANLOS SYNDROME, TYPE II; EDS2 |
| Split Ratio |
1:4 |
| 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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