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Search Results for -
HEXOSAMINIDASE A DEFICIENCY
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B VARIANT GM2-GANGLIOSIDOSIS
GM>2< GANGLIOSIDOSIS, TYPE 1
GM2-GANGLIOSIDOSIS, TYPE I
HEXA DEFICIENCY
SEVERE HEXOSAMINIDASE A DEFICIENCY
TAY-SACHS DISEASE
TSD
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Repository:
NIGMS Human Genetic Cell Repository
(7374)
NINDS Repository
(4694)
NIA Aging Cell Culture Repository
(2344)
HD Community Biorepository
(140)
NHGRI Sample Repository for Human Genetic Research
(65)
Centers for Disease Control and Prevention Repository
(24)
Orphan Disease Center
(6)
Allen Cell Collection
(3)
Autism
(2)
Collection:
Heritable Diseases
(6186)
Cerebrovascular Disease
(1975)
Parkinsonism
(1083)
Apparently Healthy Collection
(807)
GRC
(784)
PIGI Consented Sample
(746)
Lysosomal Storage Diseases
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Chromosome Abnormalities
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Epilepsy
(571)
Human Variation
(418)
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(391)
Hybrids
(370)
Muscular Dystrophies
(363)
Tourette Syndrome
(347)
GeT-RM Samples
(329)
Hereditary Cancers
(286)
Control
(262)
Disorders of the Urea Cycle
(223)
Canadian Alzheimer Disease
(208)
Animals
(201)
Venezuelan Huntington Disease
(193)
Dystonia
(191)
Alzheimer's Disease
(182)
dbGaP
(179)
CMD Specific
(162)
University of Georgia Centenarian Study
(142)
Retinitis Pigmentosa Foundation Collection
(137)
Pharmacogenetics
(130)
CEPH
(106)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(98)
German Alzheimer Disease
(87)
Italian Alzheimer Disease
(68)
NHGRI Sample Repository for Human Genetic Research
(65)
Old Order Amish Major Affective Disorder
(65)
Whole-Genome Sequence
(53)
Repository Linkage Families
(48)
Aged Sib Pairs
(47)
Ames Dwarf Mice
(47)
FOXG1
(43)
Maturity-Onset Diabetes of the Young
(31)
Alzheimer Disease With No Family History
(29)
Apparently healthy iPSCs
(26)
Nonhuman Primates
(16)
DGAP
(13)
Gene-Edited hiPSC
(12)
Engineered Cell Cultures
(11)
Specially Characterized Fibroblasts
(11)
Non-Healing Wound Collection
(10)
Frontotemporal Degeneration
(2)
Product:
DNA
(5961)
LCL
(5245)
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(2741)
Somatic cell hybrid
(229)
iPSC
(178)
Plasmid
(117)
Endothelial
(34)
Smooth muscle
(28)
High Molecular Weight DNA
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Amniotic fluid-derived cell line
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Antibodies
(6)
Protein
(4)
Chorionic villus-derived cell line
(2)
Kidney-derived cell line
(2)
Mesothelial
(2)
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(1)
Erythroleukemic cell line
(1)
FFPE
(1)
Hybridoma
(1)
Melanocyte
(1)
Microcell hybrid
(1)
Myeloma
(1)
Affected:
Yes
(7598)
No
(3318)
At Risk
(1731)
Unknown
(174)
Mutation Data Available:
N
(10253)
Y
(4399)
Source:
B-Lymphocyte
(5276)
LCL
(3276)
Whole Blood
(1716)
Fibroblast
(942)
Skin, Arm
(941)
Skin, Unspecified
(300)
Skin, Skin
(145)
Somatic cell hybrid
(141)
Lung, Lung
(63)
Skin, Ear
(58)
Skin, Thigh
(37)
Blood
(30)
Aorta, thoracic
(27)
Amniotic fluid
(16)
Skin, Abdomen
(14)
Brain striatum
(13)
Trachealis muscle
(12)
Amniotic fluid-derived cell line
(11)
Vein, iliac
(11)
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(8)
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(8)
Skin, Buttock
(7)
Skin, Sacrum
(7)
Breast organoid
(6)
Stem cell
(6)
Epithelial
(5)
Muscle, Unspecified
(5)
Skin, Foreskin
(5)
Embryonal carcinoma
(4)
Eye
(4)
Retina of eye
(4)
Skin, Back
(4)
Skin, Leg
(4)
Skin, Thorax/abdomen
(4)
Umbilical Cord, Umbilical cord
(4)
Fetal, Unspecified
(3)
Gonad, Gonad
(3)
Gonad, Ovary
(3)
Liver, Liver
(3)
Skin, Genital area
(3)
Skin, Right ischium
(3)
Artery, pulmonary
(2)
Bladder carcinoma
(2)
Chorionic villus
(2)
Chorionic villus-derived cell line
(2)
Endometrial, Uterus
(2)
Heart, Pericardium
(2)
Kidney
(2)
Lung
(2)
Placental, Placenta
(2)
Skin, Fetal
(2)
Skin, Hip
(2)
Skin, Thorax
(2)
Spleen, Keloid
(2)
Tumor-derived cell line
(2)
Whole embryo, Embryo
(2)
Adenocarcinoma
(1)
Adrenal cortex tumor
(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
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Endothelial
(1)
Fetal, Arm
(1)
Gingival, Gum
(1)
Peripheral Vein
(1)
Skin, Breast
(1)
Skin, Calf
(1)
Skin, Chest
(1)
Skin, Flank
(1)
Skin, Foot
(1)
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(1)
Skin, Posterior iliac crest
(1)
Skin, Scalp
(1)
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(1)
Skin, Toe
(1)
Smooth muscle
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(1)
Tendon, Leg
(1)
Tumor
(1)
Tumor, Abdomen
(1)
Tumor, Adenoma
(1)
Tumor, Fibroma
(1)
Tumor, Hepatoblastoma
(1)
Vein, umbilical
(1)
Sex:
Female
(7301)
Male
(6752)
Other
(3)
Race:
White
(10821)
Black/African American
(687)
Asian
(243)
Asiatic Indian
(222)
More than one race
(211)
Other
(173)
Unknown
(114)
Hispanic/Latino
(58)
East Indian
(48)
Not Reported
(37)
American Indian/Alaska Native
(36)
Asian, Other
(20)
Native Hawaiian/Other Pacific Islander
(16)
Chinese
(10)
Filipino
(7)
Caucasian
(6)
Japanese
(3)
Korean
(2)
dbGap Data Available:
No
(14209)
Yes
(443)
Extended Clinical Data Available:
No
(9543)
Yes
(5109)
Age at Sampling (Years):
45-54
(1925)
35-44
(1873)
5-14
(1689)
55-64
(1665)
25-34
(1460)
15-24
(1449)
0-4
(1396)
65-74
(995)
75-89
(648)
90-99
(100)
100+
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