GM21459
LCL from B-Lymphocyte
Description:
EHLERS-DANLOS SYNDROME, TYPE I; EDS1
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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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 |
R721fsX725; EHLERS-DANLOS SYNDROME, TYPE I |
| Identified Mutation |
2160insC |
| Remarks |
Clinically affected; classical type; midsystolic click; varicosities; soft hyperextensible skin; cigarette paper scarring on knees and shoulders; striae on back; easy bruising; Beighton score = 5/9; donor subject has an insertion of a C at nucleotide 2160 in exon 26 of the COL5A1 gene (2160insC) resulting in a frameshift and truncation at codon 721 (R721fsX725) |
| Kellogg G, Thorsson B, Cai Y, Wisotzkey R, Pollock A, Akana M, Fox R, Jansen M, Gudmundsson EF, Patel B, Chang C, Jaremko M, Puig O, Gudnason V, Emilsson V, Molecular screening of familial hypercholesterolemia in Icelanders Scandinavian journal of clinical and laboratory investigation:1-7 2020 |
| PubMed ID: 32706999 |
| 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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130000 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 |
| OMIM |
120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1 |
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130000 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 |
| Omim Description |
EDS I |
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EHLERS-DANLOS SYNDROME, CLASSIC SEVERE FORM |
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EHLERS-DANLOS SYNDROME, GRAVIS TYPE |
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EHLERS-DANLOS SYNDROME, TYPE I; EDS1 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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