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Search Results for -
NIEMANN-PICK DISEASE, TYPE A
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CLASSICAL NIEMANN-PICK DISEASE
NIEMANN-PICK DISEASE NEUROPATHIC TYPE
NIEMANN-PICK DISEASE TYPE A
NIEMANN-PICK DISEASE, ACUTE NEUROPATHIC FORM
NIEMANN-PICK DISEASE, ACUTE NEUROVISCERAL FORM
SPHINGOMYELIN LIPIDOSIS
SPHINGOMYELINASE DEFICIENCY
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Repository:
NINDS Repository
(28594)
NIGMS Human Genetic Cell Repository
(9300)
NIA Aging Cell Culture Repository
(2726)
HD Community Biorepository
(142)
NHGRI Sample Repository for Human Genetic Research
(64)
Centers for Disease Control and Prevention Repository
(27)
Orphan Disease Center
(13)
Allen Cell Collection
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Autism
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Collection:
Cerebrovascular Disease
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Heritable Diseases
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Parkinsonism
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Motor Neuron Disease
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Control
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Apparently Healthy Collection
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Chromosome Abnormalities
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GRC
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PIGI Consented Sample
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Lysosomal Storage Diseases
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Epilepsy
(582)
Muscular Dystrophies
(454)
Dystonia
(434)
Human Variation
(418)
Hybrids
(370)
GeT-RM Samples
(354)
Tourette Syndrome
(347)
Hereditary Cancers
(346)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(260)
Alzheimer's Disease
(252)
Venezuelan Huntington Disease
(251)
Old Order Amish Major Affective Disorder
(240)
Canadian Alzheimer Disease
(226)
dbGaP
(223)
Maturity-Onset Diabetes of the Young
(222)
CMD Specific
(203)
Animals
(201)
University of Georgia Centenarian Study
(142)
Retinitis Pigmentosa Foundation Collection
(137)
Pharmacogenetics
(131)
Italian Alzheimer Disease
(121)
CEPH
(107)
Disorders of the Urea Cycle
(106)
German Alzheimer Disease
(101)
NHGRI Sample Repository for Human Genetic Research
(64)
Whole-Genome Sequence
(53)
Aged Sib Pairs
(48)
Repository Linkage Families
(48)
Ames Dwarf Mice
(47)
FOXG1
(43)
Alzheimer Disease With No Family History
(31)
Apparently healthy iPSCs
(26)
Nonhuman Primates
(16)
Gene-Edited hiPSC
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Engineered Cell Cultures
(13)
DGAP
(12)
Non-Healing Wound Collection
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Specially Characterized Fibroblasts
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Frontotemporal Degeneration
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Product:
DNA
(23879)
LCL
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Fibroblast
(3270)
Somatic cell hybrid
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iPSC
(187)
Plasmid
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Endothelial
(34)
High Molecular Weight DNA
(34)
96 well plate of DNA samples
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Smooth muscle
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Preprocessed DNA
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Adipose stromal cell
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Amniotic fluid-derived cell line
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Epithelial
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Neuronally-derived
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Antibodies
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Protein
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Chorionic villus-derived cell line
(3)
Kidney-derived cell line
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Mesothelial
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aging mapping panel
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Cytoplasmic transfer (cybrid)
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Erythroleukemic cell line
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FFPE
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Hybridoma
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Melanocyte
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Microcell hybrid
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Myeloma
(1)
Affected:
Yes
(30728)
No
(5050)
At Risk
(2707)
Unknown
(180)
Mutation Data Available:
N
(35674)
Y
(5166)
No
(35)
Source:
B-Lymphocyte
(12984)
Whole Blood
(12555)
LCL
(10306)
Fibroblast
(1003)
Skin, Arm
(979)
Skin, Unspecified
(355)
Skin, Skin
(154)
Somatic cell hybrid
(141)
Lung, Lung
(64)
Skin, Ear
(58)
Skin, Thigh
(41)
Aorta, thoracic
(27)
Blood
(25)
Amniotic fluid
(14)
Skin, Abdomen
(14)
Brain striatum
(13)
Trachealis muscle
(12)
Vein, iliac
(11)
Amniotic fluid-derived cell line
(10)
Skin, Posterior iliac crest
(9)
Artery, iliac
(8)
Skin, Buttock
(8)
Skin, Buttock-thigh
(8)
Stem cell
(8)
Skin, Foreskin
(7)
Skin, Sacrum
(7)
Breast organoid
(6)
Umbilical Cord, Umbilical cord
(6)
Epithelial
(5)
Skin, Leg
(5)
Embryonal carcinoma
(4)
Eye
(4)
Retina of eye
(4)
Skin, Back
(4)
Skin, Thorax/abdomen
(4)
Chorionic villus
(3)
Chorionic villus-derived cell line
(3)
Fetal, Unspecified
(3)
Gonad, Ovary
(3)
Liver, Liver
(3)
Muscle, Unspecified
(3)
Skin, Right ischium
(3)
Skin, Thorax
(3)
Tumor-derived cell line
(3)
Artery, pulmonary
(2)
Bladder carcinoma
(2)
Endometrial, Uterus
(2)
Gonad, Gonad
(2)
Heart, Pericardium
(2)
Kidney
(2)
Lung
(2)
Placental, Placenta
(2)
Skin, Fetal
(2)
Skin, Hip
(2)
Skin, Toe
(2)
Spleen, Keloid
(2)
Whole embryo, Embryo
(2)
Adenocarcinoma
(1)
Adrenal cortex tumor
(1)
Amnion, Amnion
(1)
Aorta, abdominal
(1)
Artery, Aorta, thoracic
(1)
Ascites fluid, Ascites fluid
(1)
Brain, Brain
(1)
Brain, Unspecified
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Chest
(1)
Cornea, Cornea
(1)
Endothelial
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Fetal, Arm
(1)
Gingival, Gum
(1)
Heart, Unspecified
(1)
Hydatidiform mole
(1)
Kidney, Kidney
(1)
Lens, Eye
(1)
Peripheral Vein
(1)
Skin, Breast
(1)
Skin, Calf
(1)
Skin, Chest
(1)
Skin, Flank
(1)
Skin, Foot
(1)
Skin, Labialscrotal fold
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Skin, Scalp
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Skin, Thoraco-lumbar junction
(1)
Smooth muscle
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Tendon, Leg
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Tumor
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Tumor, Abdomen
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Tumor, Adenoma
(1)
Tumor, Fibroma
(1)
Tumor, Hepatoblastoma
(1)
Tumor, Neurofibroma
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Umbilical Cord, Vein, umbilical
(1)
Vein, umbilical
(1)
Sex:
Male
(20337)
Female
(19868)
Other
(12)
Race:
White
(32514)
Black/African American
(3650)
Asian
(630)
Other
(505)
More than one race
(438)
Unknown
(286)
Asiatic Indian
(218)
American Indian/Alaska Native
(168)
Native Hawaiian/Other Pacific Islander
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Hispanic/Latino
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East Indian
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Not Reported
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Asian, Other
(17)
Chinese
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Caucasian
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Filipino
(7)
Korean
(5)
Japanese
(3)
Vietnamese
(1)
dbGap Data Available:
No
(35713)
Yes
(5162)
Extended Clinical Data Available:
Yes
(29014)
No
(11861)
Age at Sampling (Years):
55-64
(8102)
45-54
(7092)
65-74
(6689)
35-44
(4313)
75-89
(4111)
25-34
(2527)
5-14
(2137)
15-24
(2094)
0-4
(1542)
90-99
(238)
100+
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