GM26642
LCL from B-Lymphocyte
Description:
EHLERS-DANLOS SYNDROME, TYPE I; EDS1
COLLAGEN, TYPE V, ALPHA-1; COL5A1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
Cherokee 1/16th
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
COL5A1 |
| Chromosomal Location |
9q34.2-q34.3 |
| Allelic Variant 1 |
THR>MET; EHLERS-DANLOS SYNDROME, CLASSIC TYPE |
| Identified Mutation |
c.3023C>T (p.THR1008MET) |
| Remarks |
Clinically affected; Gene panel sequencing with assembly hg19 revealed a heterozygous mutation of uncertain significance in exon 39 of the COL5A1 gene c.3023C>T (p.Thr1008Met); myopia diagnosed at age 8, vision was 20/400 at age 14 and worsening; cognitive impairment diagnosed at age 8, hypertonia diagnosed at age 14; hypotonia diagnosed at age 14; Aspbergers diagnosed at age 10; Autism spectrum disorder diagnosed at age 10; Repetitive or self-injurious behavior diagnosed at age 12; aggressive/violent behavior diagnosed at age 10; anxiety diagnosed at age 8; depression diagnosed at age 10; OCD diagnosed at age 8; short attention span diagnosed at age 8; atrophic scars present all over body and diagnosed at age 11; hyperpigmentation present at birth; hyperelastic skin diagnosed at age 14; curvature of spine diagnosed at age 10; flexible joints diagnosed at age 14; muscle function issues diagnosed at age 14; muscle underdevelopment diagnosed at age 14; esophageal problems diagnosed at age 10; stomach issues diagnosed at age 10; dysmotility present before birth; sphincter of oddi dysfunction diagnosed at age 10; autoimmune disorder diagnosed at age 10; increased inflammatory response diagnosed at age 14; recurrent infections diagnosed at age 14 ; intermittent sleep problems; pain in ankles after walking, constant back pain, swollen feet; persistent rash (2.5 years); frequent headaches, sometimes with nausea and light sensitivity; difficulty concentrating, anhedonia; medications include: dapsone, guanefacine, vyvance, fluoxetine, fish oil, amitriptyline; treatment for depression, anxiety, and ADHD; tonsils removed at age 5; blood analysis revealed low white blood cell count, low mean cell HGB, high lymphocyte percentage, low granulocyte concentration; slight neutropenia; many methicillin-sensitive Staph aureus with small amount of usual mixed skin flora; low immunoglobulin A levels, low creatinine levels, high SGPT/ALT; esophagogastroduodenoscopy revealed bile gastritis; intestinal biopsy revealed lactase deficiency; mother is GM26643 |
| Gene Cards |
COL5A1 |
| Gene Ontology |
GO:0005201 extracellular matrix structural constituent |
|
GO:0005581 collagen |
|
GO:0005588 collagen type V |
|
GO:0005737 cytoplasm |
|
GO:0006817 phosphate transport |
|
GO:0007155 cell adhesion |
|
GO:0008201 heparin binding |
| NCBI Gene |
Gene ID:1289 |
| NCBI GTR |
120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1 |
|
130000 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 |
| OMIM |
120215 COLLAGEN, TYPE V, ALPHA-1; COL5A1 |
|
130000 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 |
| Omim Description |
EDS I |
| |
EHLERS-DANLOS SYNDROME, CLASSIC SEVERE FORM |
| |
EHLERS-DANLOS SYNDROME, GRAVIS TYPE |
| |
EHLERS-DANLOS SYNDROME, TYPE I; EDS1 |
| Split Ratio |
1:3 |
| 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 |
- |
|
|