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GM28475
Fibroblast
from
Skin, Skin
Description:
EHLERS-DANLOS SYNDROME, TYPE VI
PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD1
Affected:
Yes
Sex:
Female
Age:
3
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
PIGI Consented Sample
Biopsy Source
Skin
Cell Type
Fibroblast
Tissue Type
Skin
Transformant
Untransformed
Sample Source
Fibroblast from Skin, Skin
Race
More than one race
Ethnicity
Hispanic/Latino
Ethnicity
JEWISH, SIRIAN
Country of Origin
USA
Family Member
1
Family History
N
Relation to Proband
proband
Confirmation
Molecular characterization before cell line submission to CCR
Species
Homo
sapiens
Common Name
Human
Remarks
See "Phenotypic Data" Tab
Characterizations
PDL at Freeze
9.37
Passage Frozen
2
Gene
PLOD1
Chromosomal Location
1p36.3-p36.2
Allelic Variant 2
Gly159ValfsTer68; EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1; EDSKSCL1
Identified Mutation
c476delG (p.Gly159ValfsTer68)
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
3 YR
Sex
Female
Age at Diagnosis(If not a control)
9 MO
Hispanic or Latino/Not Hispanic or Latino
Hispanic/Latino
Racial Category
More than one race
Country
USA
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
(Baseline)
Mutation Information
Gene, variant, consequence, and exon number:
SEQUENCING REVEALED A HOMOZYGOUS PATHOGENIC VARIANT (C.476DELG) IN THE PLOD1 GENE RESULTING IN A FRAMESHIFT MUTATION (P.GLY159VALFSTER68).
Zygosity:
Homozygous
Age of Symptom Onset and Age at Diagnosis
Age at Diagnosis:
9 MONTHS
In Utero History Information
Birth History Information
Dysmorphic Features
Additional Information:
SLENDER HABITUS, MARFANOID IN APPEARANCE; PROMINENT FOREHEAD; BITEMPORAL HOLLOWING;
Neurological Symptoms
Hypotonia
Additional Information:
CENTRAL NERVOUS SYSTEM HEMORRHAGE; BRACHIAL PLEXUS INJURY;
Optical and Audiological Symptoms
Musculoskeletal Symptoms
Scoliosis
Additional Information:
LOW TONE; KYPHOSCOLIOSIS; ARM INJURY; HYPEREXTENSIBLE; INCREASED FLEXIBILITY ON ALL JOINTS;
Developmental Milestones
Additional Information:
DIFFICULTIES WITH CRAWLING AND STANDING; CANNOT BEAR WEIGHT ON ARMS;
Gastrointestinal Symptoms
Genitourinary Symptoms
Additional Information:
URINE SCREEN SHOWED DEOXY-PRYIDINOLINE/PYRIDINOLINE RATIO MARKEDLY INCREASED
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Additional Information
Uncategorized Symptoms:
SENSITIVE SKIN; KERATOSIS PILARIS ON LEGS;
Testing Performed
Neurological Testing:
BRAIN MRI SHOWED ENLARGEMENT OF HEMORRHAGIC CAVITY ON RIGHT SIDE, MILDLY INCREASED SIZE OF THIRD AND LATERAL VENTRICLES; SPINE MRI SHOWED MILDLY THICKENED FRIABLE FATTY FILUM AT LUMBOSACRAL JUNCTION; BRACHIAL PLEXUS MRI SHOWS SLIGHT THICKENING OF RIGHT C7 PROXIMAL RADIUS AND RIGHT BRACHIAL PLEXUS TRACTION INJURY WITH POSTTRAUMATIC NEUROMA
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Wheelchair or ambulation devices
Surgeries
BRACHIAL PLEXUS SURGERY
Medications
Family History
NO FAMILY HISTORY OF ELHERS-DANLOS SYNDROME; GRANDFATHER HAS A HISTORY OF SEIZURES; GRANDMOTHER HAS A HISTORY OF THYROID DISEASE
Remarks
See "Phenotypic Data" Tab
External Links
Gene Cards
PLOD1
Gene Ontology
GO:0005489 electron transporter activity
GO:0005783 endoplasmic reticulum
GO:0006464 protein modification
GO:0008475 procollagen-lysine 5-dioxygenase activity
GO:0008544 epidermis development
GO:0016020 membrane
GO:0016491 oxidoreductase activity
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
NCBI Gene
Gene ID:5351
NCBI GTR
153454 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD1
225400 EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1; EDSKSCL1
OMIM
153454 PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; PLOD1
225400 EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1; EDSKSCL1
Omim Description
EDS VI
EDS6
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE
EHLERS-DANLOS SYNDROME, TYPE VI
Culture Protocols
Cumulative PDL at Freeze
9.37
Passage Frozen
2
Split Ratio
1:7
Temperature
37 C
Percent CO2
5%
Percent O2
3%
Medium
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum
15% fetal bovine serum Not inactivated
Supplement
-
Pricing
Commercial/For-profit:
$373.00
USD
Academic/Non-profit/Government:
$216.00
USD
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