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Search Results for -
muscles%2C muscle%2C hypotonia%2C movement%2C dystonia%2C dystrophy%2C tone%2C %22muscle weakness%22%2C gait%2C myopathy
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Repository:
NIGMS Human Genetic Cell Repository
(3250)
NINDS Repository
(4495)
NIA Aging Cell Culture Repository
(306)
Orphan Disease Center
(13)
Autism
(10)
Centers for Disease Control and Prevention Repository
(10)
Allen Cell Collection
(7)
HD Community Biorepository
(5)
NHGRI Sample Repository for Human Genetic Research
(4)
Collection:
Dystonia
(3947)
Heritable Diseases
(2531)
Chromosome Abnormalities
(667)
Muscular Dystrophies
(543)
PIGI Consented Sample
(435)
CMD Specific
(268)
dbGaP
(239)
Apparently Healthy Collection
(174)
Motor Neuron Disease
(151)
GeT-RM Samples
(147)
Lysosomal Storage Diseases
(135)
Hybrids
(128)
Parkinsonism
(112)
Epilepsy
(97)
Control
(96)
Animals
(92)
Human Variation
(62)
Tourette Syndrome
(60)
Retinitis Pigmentosa Foundation Collection
(57)
Old Order Amish Major Affective Disorder
(40)
Cerebrovascular Disease
(36)
DGAP
(35)
Pharmacogenetics
(32)
GRC
(30)
Hereditary Cancers
(26)
Venezuelan Huntington Disease
(26)
FOXG1
(23)
CEPH
(15)
Disorders of the Urea Cycle
(15)
Apparently healthy iPSCs
(11)
University of Georgia Centenarian Study
(11)
Maturity-Onset Diabetes of the Young
(10)
Canadian Alzheimer Disease
(9)
Nonhuman Primates
(9)
Alzheimer's Disease
(7)
Italian Alzheimer Disease
(7)
Gene-Edited hiPSC
(6)
German Alzheimer Disease
(6)
Repository Linkage Families
(6)
Whole-Genome Sequence
(5)
Engineered Cell Cultures
(4)
NHGRI Sample Repository for Human Genetic Research
(4)
Aged Sib Pairs
(3)
Alzheimer Disease With No Family History
(3)
Stem Cell Collection
(2)
Non-Healing Wound Collection
(1)
Product:
DNA
(5287)
LCL
(1696)
Fibroblast
(806)
iPSC
(94)
Somatic cell hybrid
(72)
Smooth muscle
(61)
Endothelial
(37)
Adipose stromal cell
(11)
High Molecular Weight DNA
(11)
Epithelial
(5)
Plasmid
(5)
Tumor-derived cell line
(5)
Amniotic fluid-derived cell line
(4)
mESC
(2)
Chorionic villus-derived cell line
(1)
Cytoplasmic transfer (cybrid)
(1)
Keratinocyte
(1)
hybrid regional mapping panel
(1)
Affected:
Yes
(6423)
No
(822)
At Risk
(210)
Unknown
(44)
Mutation Data Available:
N
(6439)
Y
(1660)
No
(1)
Source:
Whole Blood
(4156)
B-Lymphocyte
(1712)
LCL
(806)
Fibroblast
(336)
Skin, Unspecified
(160)
Skin, Arm
(79)
Skin, Skin
(76)
Somatic cell hybrid
(55)
Aorta, thoracic
(49)
Skin, Thigh
(36)
Lung, Lung
(15)
Trachealis muscle
(12)
Vein, iliac
(11)
Artery, pulmonary
(9)
Artery, iliac
(8)
Skin, Abdomen
(8)
Stem cell
(8)
Blood
(7)
Muscle, Unspecified
(6)
Amniotic fluid
(4)
Breast organoid
(3)
Leiomyoma
(3)
Skin, Buttock
(3)
Smooth muscle
(3)
Aortic arch
(2)
Bladder carcinoma
(2)
Epithelial
(2)
Placental, Placenta
(2)
Retina of eye
(2)
Skin, Foreskin
(2)
Skin, Hip
(2)
Skin, Thorax
(2)
Umbilical Cord, Umbilical cord
(2)
Vein, umbilical
(2)
Adenocarcinoma
(1)
Amniotic fluid-derived cell line
(1)
Aorta, abdominal
(1)
Artery, carotid
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Chorionic villus
(1)
Cornea, Cornea
(1)
Endothelial
(1)
Ewing sarcoma
(1)
Fetal, Unspecified
(1)
Gingival, Gum
(1)
Heart, Pericardium
(1)
Kidney, Kidney
(1)
Lens, Eye
(1)
Liver, Liver
(1)
Neuroepithelioma
(1)
Polyp, Nasal
(1)
Skin, Back
(1)
Skin, Buttock-thigh
(1)
Skin, Flank
(1)
Skin, Foot
(1)
Skin, Leg
(1)
Skin, Posterior iliac crest
(1)
Skin, Sacral area
(1)
Skin, Shoulder
(1)
Spleen, Keloid
(1)
Uterine muscle, Uterus
(1)
Whole embryo, Embryo
(1)
Sex:
Female
(4741)
Male
(3206)
Other
(4)
Race:
White
(6318)
Black/African American
(324)
Asian
(185)
Other
(111)
More than one race
(75)
Unknown
(51)
Hispanic/Latino
(34)
Not Reported
(22)
American Indian/Alaska Native
(17)
Asiatic Indian
(16)
Native Hawaiian/Other Pacific Islander
(15)
Chinese
(13)
Asian, Other
(12)
Caucasian
(10)
East Indian
(7)
Korean
(5)
Filipino
(2)
Japanese
(2)
dbGap Data Available:
No
(7933)
Yes
(167)
Extended Clinical Data Available:
Yes
(4628)
No
(3472)
Age at Sampling (Years):
55-64
(1069)
15-24
(1023)
65-74
(900)
45-54
(774)
0-4
(669)
35-44
(605)
5-14
(594)
25-34
(474)
75-89
(329)
90-99
(4)
100+
(3)
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