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Search Results for -
MUSCULAR%20DYSTROPHY-DYSTROGLYCANOPATHY%20%28CONGENITAL%20WITH%20BRAIN%20AND%20EYE%20ANOMALIES%29%2C%20TYPE%20A%2C%201
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Repository:
NIGMS Human Genetic Cell Repository
(2198)
NINDS Repository
(894)
NIA Aging Cell Culture Repository
(584)
NHGRI Sample Repository for Human Genetic Research
(213)
HD Community Biorepository
(18)
Orphan Disease Center
(7)
Allen Cell Collection
(6)
Autism
(4)
Centers for Disease Control and Prevention Repository
(1)
Collection:
Heritable Diseases
(1716)
Muscular Dystrophies
(544)
CMD Specific
(260)
PIGI Consented Sample
(257)
Chromosome Abnormalities
(250)
Apparently Healthy Collection
(248)
Motor Neuron Disease
(235)
University of Georgia Centenarian Study
(221)
NHGRI Sample Repository for Human Genetic Research
(213)
Epilepsy
(207)
Control
(161)
dbGaP
(159)
GeT-RM Samples
(140)
Human Variation
(133)
Cerebrovascular Disease
(113)
Hybrids
(102)
Tourette Syndrome
(95)
Old Order Amish Major Affective Disorder
(94)
CEPH
(77)
Pharmacogenetics
(77)
GRC
(67)
Lysosomal Storage Diseases
(60)
Parkinsonism
(49)
Animals
(46)
Repository Linkage Families
(40)
Dystonia
(36)
Alzheimer's Disease
(32)
Hereditary Cancers
(32)
Apparently healthy iPSCs
(28)
Maturity-Onset Diabetes of the Young
(28)
Canadian Alzheimer Disease
(24)
Venezuelan Huntington Disease
(22)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(16)
Italian Alzheimer Disease
(16)
FOXG1
(15)
Nonhuman Primates
(13)
Alzheimer Disease With No Family History
(12)
Stem Cell Collection
(12)
German Alzheimer Disease
(11)
Gene-Edited hiPSC
(10)
Disorders of the Urea Cycle
(7)
DGAP
(6)
Retinitis Pigmentosa Foundation Collection
(6)
Whole-Genome Sequence
(5)
Ames Dwarf Mice
(4)
Specially Characterized Fibroblasts
(4)
Engineered Cell Cultures
(2)
Non-Healing Wound Collection
(2)
Aged Sib Pairs
(1)
Product:
DNA
(1568)
LCL
(1492)
Fibroblast
(568)
iPSC
(129)
Somatic cell hybrid
(57)
High Molecular Weight DNA
(20)
Preprocessed DNA
(20)
Plasmid
(17)
mESC
(12)
Adipose stromal cell
(11)
Amniotic fluid-derived cell line
(7)
Endothelial
(7)
Tumor-derived cell line
(6)
Smooth muscle
(3)
Melanocyte
(2)
Chorionic villus-derived cell line
(1)
Epithelial
(1)
FFPE
(1)
Keratinocyte
(1)
Neuronally-derived
(1)
aging mapping panel
(1)
Affected:
Yes
(1899)
No
(1237)
At Risk
(110)
Unknown
(110)
Mutation Data Available:
N
(2940)
Y
(984)
No
(1)
Source:
B-Lymphocyte
(1513)
LCL
(865)
Whole Blood
(478)
Fibroblast
(271)
Skin, Arm
(108)
Skin, Unspecified
(103)
Skin, Skin
(54)
Somatic cell hybrid
(45)
Skin, Foreskin
(37)
Blood
(23)
Lung, Lung
(12)
Stem cell
(9)
Amniotic fluid
(7)
Skin, Thigh
(6)
Aorta, thoracic
(5)
Skin, Abdomen
(5)
Skin, Buttock
(4)
Skin, Ear
(4)
Fetal, Unspecified
(3)
Skin, Leg
(3)
Amniotic fluid-derived cell line
(2)
Artery, iliac
(2)
Bladder carcinoma
(2)
Conjunctiva, Conjunctiva
(2)
Placental, Placenta
(2)
Skin, Buttock-thigh
(2)
Skin, Posterior iliac crest
(2)
Adenocarcinoma
(1)
Aorta, abdominal
(1)
Artery, pulmonary
(1)
Brain striatum
(1)
Chest
(1)
Chorionic villus
(1)
Chorionic villus-derived cell line
(1)
Endothelial
(1)
Eye
(1)
Gonad, Testes
(1)
Lens, Eye
(1)
Neuroepithelioma
(1)
Peripheral Vein
(1)
Skin, Fetal
(1)
Skin, Hip
(1)
Skin, Inguinal area
(1)
Skin, Omentum
(1)
Skin, Sacral area
(1)
Skin, Sacrum
(1)
Skin, Shoulder
(1)
Skin, Thorax
(1)
Skin, Thorax/abdomen
(1)
T-Lymphocyte
(1)
Tendon, Achilles tendon
(1)
Umbilical Cord, Vein, umbilical
(1)
Uterine muscle, Uterus
(1)
Vein, iliac
(1)
Whole embryo, Embryo
(1)
Sex:
Male
(1895)
Female
(1875)
Other
(5)
Race:
White
(2600)
Black/African American
(258)
Asian
(67)
More than one race
(66)
Other
(40)
Hispanic/Latino
(35)
Unknown
(31)
Chinese
(24)
Asiatic Indian
(15)
American Indian/Alaska Native
(9)
Asian, Other
(9)
Native Hawaiian/Other Pacific Islander
(6)
East Indian
(5)
Korean
(5)
Not Reported
(5)
Caucasian
(4)
Japanese
(1)
Vietnamese
(1)
dbGap Data Available:
No
(3801)
Yes
(124)
Extended Clinical Data Available:
No
(2931)
Yes
(994)
Age at Sampling (Years):
25-34
(885)
15-24
(791)
0-4
(369)
35-44
(307)
5-14
(294)
45-54
(253)
55-64
(232)
65-74
(124)
75-89
(71)
90-99
(6)
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