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Search Results for -
ACETYL-COA: HEPARAN-ALPHA-D-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY
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Repository:
NINDS Repository
(52559)
NIGMS Human Genetic Cell Repository
(15696)
NHGRI Sample Repository for Human Genetic Research
(7416)
NIA Aging Cell Culture Repository
(4199)
AREDS
(2931)
Autism
(362)
HD Community Biorepository
(201)
Allen Cell Collection
(28)
Centers for Disease Control and Prevention Repository
(8)
Orphan Disease Center
(7)
CIMR Research
(3)
Custom Services
(1)
Human Reference Genetic Material Repository
(1)
Collection:
Cerebrovascular Disease
(13824)
Control
(10453)
Heritable Diseases
(9146)
Parkinsonism
(8377)
Epilepsy
(7704)
NHGRI Sample Repository for Human Genetic Research
(7416)
Motor Neuron Disease
(5538)
Tourette Syndrome
(4379)
Dystonia
(3940)
Chromosome Abnormalities
(2812)
Human Variation
(1771)
Apparently Healthy Collection
(1710)
CEPH
(1607)
dbGaP
(1239)
Old Order Amish Major Affective Disorder
(1009)
PIGI Consented Sample
(950)
University of Georgia Centenarian Study
(853)
Repository Linkage Families
(810)
GRC
(791)
Lysosomal Storage Diseases
(597)
Hybrids
(574)
Animals
(530)
Michigan
(400)
Muscular Dystrophies
(373)
Massachusetts
(372)
The 90+ Study
(331)
Maryland
(321)
Georgia
(311)
Illinois
(277)
Pennsylvania
(266)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(260)
Pharmacogenetics
(257)
Venezuelan Huntington Disease
(251)
Disorders of the Urea Cycle
(221)
Maturity-Onset Diabetes of the Young
(220)
GeT-RM Samples
(217)
Hereditary Cancers
(217)
Canadian Alzheimer Disease
(213)
Alzheimer's Disease
(195)
CMD Specific
(169)
Italian Alzheimer Disease
(121)
Nonhuman Primates
(114)
Stem Cell Collection
(103)
German Alzheimer Disease
(101)
Retinitis Pigmentosa Foundation Collection
(83)
Aged Sib Pairs
(73)
DGAP
(72)
Whole-Genome Sequence
(52)
Ames Dwarf Mice
(47)
FOXG1
(46)
Apparently healthy iPSCs
(38)
Alzheimer Disease With No Family History
(30)
Non-Healing Wound Collection
(17)
Engineered Cell Cultures
(15)
Oregon
(14)
Wisconsin
(13)
Gene-Edited hiPSC
(11)
Specially Characterized Fibroblasts
(11)
Frontotemporal Degeneration
(4)
New York
(3)
Prostate Cancer
(3)
Johns Hopkins University
(2)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Product:
DNA
(53710)
LCL
(24320)
Fibroblast
(4199)
Somatic cell hybrid
(322)
Plasmid
(171)
iPSC
(155)
mESC
(103)
Smooth muscle
(61)
Amniotic fluid-derived cell line
(59)
High Molecular Weight DNA
(48)
Endothelial
(47)
Adipose stromal cell
(37)
Melanocyte
(35)
Keratinocyte
(33)
Preprocessed DNA
(21)
Epithelial
(15)
Tumor-derived cell line
(15)
Neuronally-derived
(13)
Antibodies
(12)
Hybridoma
(7)
Myeloma
(7)
Chorionic villus-derived cell line
(4)
Mesothelial
(4)
Protein
(4)
Erythroleukemic cell line
(2)
Kidney-derived cell line
(2)
Antigen
(1)
Cytoplasmic transfer (cybrid)
(1)
FFPE
(1)
Microcell hybrid
(1)
Virus
(1)
Affected:
Yes
(42544)
No
(18237)
At Risk
(6014)
Unknown
(3149)
Mutation Data Available:
N
(81311)
Y
(2101)
Source:
Whole Blood
(30635)
B-Lymphocyte
(24645)
LCL
(21311)
Fibroblast
(1286)
Skin, Arm
(1035)
Skin, Unspecified
(361)
Somatic cell hybrid
(252)
Skin, Skin
(140)
Skin, Foreskin
(124)
Lung, Lung
(104)
Skin, Ear
(65)
Amniotic fluid
(58)
Aorta, thoracic
(57)
Skin, Thigh
(45)
Skin, Abdomen
(32)
Stem cell
(31)
Amniotic fluid-derived cell line
(21)
Brain striatum
(13)
Skin, Posterior iliac crest
(12)
Trachealis muscle
(12)
Blood
(11)
Fetal, Unspecified
(11)
Vein, iliac
(11)
Gonad, Gonad
(10)
Skin, Leg
(10)
Skin, Thorax/abdomen
(10)
Artery, iliac
(9)
Artery, pulmonary
(9)
Skin, Buttock
(9)
Skin, Thorax
(9)
Umbilical Cord, Umbilical cord
(9)
Skin, Inguinal area
(8)
Skin, Sacrum
(8)
Whole embryo, Embryo
(8)
Gonad, Ovary
(7)
Skin, Buttock-thigh
(7)
Breast organoid
(6)
Muscle, Unspecified
(6)
Conjunctiva, Conjunctiva
(5)
Epithelial
(5)
Liver, Liver
(5)
Retina of eye
(5)
Skin, Back
(5)
Skin, Fetal
(5)
Skin, Right ischium
(5)
Chorionic villus
(4)
Embryonal carcinoma
(4)
Eye
(4)
Gingival, Gum
(4)
Gonad, Testes
(4)
Placental, Placenta
(4)
Skin, Hip
(4)
Chorionic villus-derived cell line
(3)
Kidney, Kidney
(3)
Leiomyoma
(3)
Skin, Genital area
(3)
Skin, Toe
(3)
Smooth muscle
(3)
Amnion, Amnion
(2)
Aorta, abdominal
(2)
Aortic arch
(2)
Ascites fluid
(2)
Bladder carcinoma
(2)
Endometrial, Uterus
(2)
Kidney
(2)
Lung
(2)
Mesothelial
(2)
Skin, Calf
(2)
Skin, Chest
(2)
Skin, Neck
(2)
Skin, Shoulder
(2)
Skin, Thoraco-lumbar junction
(2)
Skin, Umbilical area
(2)
T-Lymphocyte
(2)
Tendon, Achilles tendon
(2)
Tumor
(2)
Tumor-derived cell line
(2)
Umbilical Cord, Vein, umbilical
(2)
Vein, umbilical
(2)
Adenocarcinoma
(1)
Adrenal cortex tumor
(1)
Artery, Aorta, thoracic
(1)
Artery, carotid
(1)
Ascites fluid, Ascites fluid
(1)
Brain, Brain
(1)
Brain, Unspecified
(1)
Chest
(1)
Cornea, Cornea
(1)
Endothelial
(1)
Ewing sarcoma
(1)
Fetal, Arm
(1)
Heart, Pericardium
(1)
Heart, Unspecified
(1)
Hydatidiform mole
(1)
Ligament, Teeth
(1)
Neuroepithelioma
(1)
Osteosarcoma
(1)
Skin, Axilla
(1)
Skin, Breast
(1)
Skin, Embryo
(1)
Sex:
Female
(41924)
Male
(39284)
Other
(26)
Race:
White
(54624)
Black/African American
(7466)
More than one race
(1636)
Asian
(1206)
Other
(1026)
Unknown
(766)
Hispanic/Latino
(359)
Caucasian
(313)
American Indian/Alaska Native
(282)
Asiatic Indian
(250)
Chinese
(216)
Native Hawaiian/Other Pacific Islander
(98)
Not Reported
(60)
Asian, Other
(27)
East Indian
(18)
Filipino
(6)
Korean
(6)
Vietnamese
(3)
Japanese
(2)
dbGap Data Available:
No
(70045)
Yes
(13367)
Extended Clinical Data Available:
Yes
(53160)
No
(30252)
Age at Sampling (Years):
55-64
(11726)
45-54
(11002)
65-74
(9621)
35-44
(8667)
25-34
(6286)
75-89
(5525)
5-14
(5383)
15-24
(5089)
0-4
(3398)
90-99
(750)
100+
(240)
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