GM21662
LCL from B-Lymphocyte
Description:
EHLERS-DANLOS SYNDROME: TYPE IV; ARTERIAL, ECCHYMOTIC TYPE
COLLAGEN, TYPE III, ALPHA-1; COL3A1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
COL3A1 |
| Chromosomal Location |
2q31 |
| Allelic Variant 1 |
G373R; EHLERS-DANLOS TYPE IV |
| Identified Mutation |
GLY373ARG |
| Remarks |
Clinically affected; abnormal motility of procollagen III; migraines resolved after pill; slight hearing loss; history of blood in urine; abnormal nasal bridge; micrognathia; blue-grey sclerae; heart murmur; midsystolic click; cyanosis; varicosities in lower legs; blood pressure 104/44; soft translucent velvety skin; piezogenic papules; scoliosis; hyperextension of shoulders, hips and knees; limited neck mobility; pes planus; disc disease noted at C4-C5 and C5-C6 with mild spinal canal stenosis; see GM21663 Fibroblast; donor subject is heterozygous for a G>A change at nucleotide 1618 of the COL3A1 gene (c.1618G>A) resulting in a substitution of arginine for glycine at codon 373 [Gly373Arg (G373R)] |
| 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 |
COL3A1 |
| Gene Ontology |
GO:0005201 extracellular matrix structural constituent |
|
GO:0005581 collagen |
|
GO:0005586 collagen type III |
|
GO:0005737 cytoplasm |
|
GO:0006817 phosphate transport |
|
GO:0008015 circulation |
|
GO:0009887 organogenesis |
| NCBI Gene |
Gene ID:1281 |
| NCBI GTR |
120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1 |
|
130050 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC |
| OMIM |
120180 COLLAGEN, TYPE III, ALPHA-1; COL3A1 |
|
130050 EHLERS-DANLOS SYNDROME, VASCULAR TYPE; EDSVASC |
| Omim Description |
EDS IV |
| |
EDS4 |
| |
EHLERS-DANLOS SYNDROME, ARTERIAL TYPE |
| |
EHLERS-DANLOS SYNDROME, ECCHYMOTIC TYPE |
| |
EHLERS-DANLOS SYNDROME, SACK-BARABAS TYPE |
| |
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT |
| 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 |
- |
|
|