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Search Results for -
EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
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Also searched for:
BENIGN SCAPULOPERONEAL MUSCULAR DYSTROPHY WITH CARDIOMYOPATHY
EDMD2
EDMD3
EMD2
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHY
MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT
SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY
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Repository:
NIGMS Human Genetic Cell Repository
(11241)
NINDS Repository
(9013)
NHGRI Sample Repository for Human Genetic Research
(2681)
NIA Aging Cell Culture Repository
(2449)
Autism
(84)
Orphan Disease Center
(13)
Centers for Disease Control and Prevention Repository
(11)
Allen Cell Collection
(7)
HD Community Biorepository
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Heritable Diseases
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Epilepsy
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NHGRI Sample Repository for Human Genetic Research
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Parkinsonism
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Control
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Chromosome Abnormalities
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Human Variation
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Old Order Amish Major Affective Disorder
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dbGaP
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PIGI Consented Sample
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Apparently Healthy Collection
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Tourette Syndrome
(787)
GRC
(783)
Lysosomal Storage Diseases
(563)
CEPH
(545)
Muscular Dystrophies
(545)
GeT-RM Samples
(330)
Animals
(286)
Repository Linkage Families
(277)
CMD Specific
(268)
Hereditary Cancers
(268)
Maturity-Onset Diabetes of the Young
(220)
Canadian Alzheimer Disease
(185)
Hybrids
(183)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(156)
Alzheimer's Disease
(150)
Pharmacogenetics
(149)
University of Georgia Centenarian Study
(144)
Venezuelan Huntington Disease
(127)
Disorders of the Urea Cycle
(116)
Italian Alzheimer Disease
(108)
Retinitis Pigmentosa Foundation Collection
(96)
German Alzheimer Disease
(93)
Dystonia
(84)
Nonhuman Primates
(66)
FOXG1
(51)
The 90+ Study
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Aged Sib Pairs
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DGAP
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Ames Dwarf Mice
(44)
Stem Cell Collection
(32)
Alzheimer Disease With No Family History
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Whole-Genome Sequence
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Non-Healing Wound Collection
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Gene-Edited hiPSC
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Apparently healthy iPSCs
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Engineered Cell Cultures
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Frontotemporal Degeneration
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Prostate Cancer
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LCL
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iPSC
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(98)
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(32)
mESC
(32)
High Molecular Weight DNA
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Endothelial
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Amniotic fluid-derived cell line
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Preprocessed DNA
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Adipose stromal cell
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Epithelial
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human variation panel
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Myeloma
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Chorionic villus-derived cell line
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Hybridoma
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Mesothelial
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Neuronally-derived
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hybrid mapping panel
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FFPE
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gene mutation panel
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hybrid regional mapping panel
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Affected:
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(9987)
No
(7498)
At Risk
(2622)
Unknown
(1308)
Mutation Data Available:
N
(20662)
Y
(4830)
No
(10)
Source:
B-Lymphocyte
(9631)
LCL
(7155)
Whole Blood
(3661)
Fibroblast
(1037)
Skin, Arm
(974)
Skin, Unspecified
(352)
Skin, Skin
(194)
Somatic cell hybrid
(85)
Skin, Ear
(50)
Lung, Lung
(48)
Skin, Thigh
(47)
Aorta, thoracic
(39)
Skin, Abdomen
(24)
Skin, Foreskin
(23)
Amniotic fluid
(21)
Blood
(12)
Skin, Posterior iliac crest
(12)
Skin, Thorax
(8)
Amniotic fluid-derived cell line
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Skin, Back
(7)
Skin, Buttock
(7)
Stem cell
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Skin, Leg
(6)
Skin, Thorax/abdomen
(6)
Artery, iliac
(5)
Liver, Liver
(5)
Placental, Placenta
(5)
Skin, Buttock-thigh
(5)
Skin, Inguinal area
(5)
Skin, Sacrum
(5)
Umbilical Cord, Umbilical cord
(5)
Vein, iliac
(5)
Muscle, Unspecified
(4)
Skin, Hip
(4)
Artery, pulmonary
(3)
Breast organoid
(3)
Fetal, Unspecified
(3)
Gonad, Gonad
(3)
Gonad, Ovary
(3)
Kidney, Kidney
(3)
Skin, Right ischium
(3)
Tumor-derived cell line
(3)
Aorta, abdominal
(2)
Brain striatum
(2)
Chorionic villus
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Conjunctiva, Conjunctiva
(2)
Gonad, Testes
(2)
Heart, Pericardium
(2)
Kidney
(2)
Leiomyoma
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Retina of eye
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Skin, Fetal
(2)
Skin, Genital area
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Skin, Labialscrotal fold
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Skin, Thoraco-lumbar junction
(2)
Skin, Toe
(2)
Smooth muscle
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(2)
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(2)
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Vein, umbilical
(2)
Adenocarcinoma
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Adrenal cortex tumor
(1)
Aortic arch
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Artery, Aorta, thoracic
(1)
Ascites fluid
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Brain, Unspecified
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(1)
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Chorionic villus-derived cell line
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Cornea, Cornea
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Endothelial
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Ewing sarcoma
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Eye
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Heart, Unspecified
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Hydatidiform mole
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Lung
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Mesothelial
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Skin, Axilla
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Skin, Breast
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Skin, Umbilical area
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Tumor, Abdomen
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Tumor, Adenoma
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Tumor, Fibroma
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Tumor, Hepatoblastoma
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(13782)
Male
(11412)
Other
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(17233)
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(1012)
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(515)
Asian
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Not Reported
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Native Hawaiian/Other Pacific Islander
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Filipino
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Korean
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Japanese
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dbGap Data Available:
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(22415)
Yes
(3087)
Extended Clinical Data Available:
No
(16048)
Yes
(9454)
Age at Sampling (Years):
35-44
(3092)
45-54
(2863)
55-64
(2669)
25-34
(2555)
15-24
(2154)
0-4
(2096)
5-14
(2058)
65-74
(2033)
75-89
(1272)
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100+
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