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Search Results for -
LEBER CONGENITAL AMAUROSIS 2
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Also searched for:
AMAUROSIS CONGENITA OF LEBER
AMAUROSIS CONGENITA OF LEBER II
LCA2
TYPE I OR II - 204000 OR 204100
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Repository:
NIGMS Human Genetic Cell Repository
(10841)
NINDS Repository
(8783)
NHGRI Sample Repository for Human Genetic Research
(2680)
NIA Aging Cell Culture Repository
(2442)
Autism
(84)
Orphan Disease Center
(13)
Centers for Disease Control and Prevention Repository
(10)
Allen Cell Collection
(7)
HD Community Biorepository
(3)
Collection:
Heritable Diseases
(7707)
Epilepsy
(2810)
NHGRI Sample Repository for Human Genetic Research
(2680)
Control
(2157)
Parkinsonism
(2145)
Chromosome Abnormalities
(1762)
Motor Neuron Disease
(1418)
Human Variation
(1075)
Cerebrovascular Disease
(1027)
Old Order Amish Major Affective Disorder
(1009)
dbGaP
(861)
PIGI Consented Sample
(809)
Apparently Healthy Collection
(795)
Tourette Syndrome
(787)
GRC
(781)
Lysosomal Storage Diseases
(552)
CEPH
(545)
Muscular Dystrophies
(421)
GeT-RM Samples
(308)
Animals
(287)
Repository Linkage Families
(277)
Hereditary Cancers
(260)
CMD Specific
(239)
Canadian Alzheimer Disease
(185)
Hybrids
(179)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(156)
Pharmacogenetics
(149)
Alzheimer's Disease
(148)
University of Georgia Centenarian Study
(144)
Venezuelan Huntington Disease
(127)
Disorders of the Urea Cycle
(116)
Italian Alzheimer Disease
(108)
German Alzheimer Disease
(93)
FOXG1
(90)
Dystonia
(83)
Nonhuman Primates
(66)
Retinitis Pigmentosa Foundation Collection
(60)
Maturity-Onset Diabetes of the Young
(58)
The 90+ Study
(51)
Aged Sib Pairs
(48)
DGAP
(48)
Ames Dwarf Mice
(44)
Stem Cell Collection
(32)
Alzheimer Disease With No Family History
(23)
Whole-Genome Sequence
(23)
Gene-Edited hiPSC
(10)
Non-Healing Wound Collection
(9)
Apparently healthy iPSCs
(4)
Engineered Cell Cultures
(4)
Frontotemporal Degeneration
(2)
Prostate Cancer
(2)
Specially Characterized Fibroblasts
(1)
Product:
DNA
(11634)
LCL
(9228)
Fibroblast
(3572)
iPSC
(115)
Somatic cell hybrid
(96)
Smooth muscle
(32)
mESC
(32)
Endothelial
(29)
High Molecular Weight DNA
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Amniotic fluid-derived cell line
(22)
Adipose stromal cell
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Epithelial
(6)
Keratinocyte
(6)
human variation panel
(6)
Melanocyte
(5)
Myeloma
(4)
Chorionic villus-derived cell line
(2)
Hybridoma
(2)
Kidney-derived cell line
(2)
Mesothelial
(2)
Neuronally-derived
(2)
hybrid mapping panel
(2)
Cytoplasmic transfer (cybrid)
(1)
Erythroleukemic cell line
(1)
FFPE
(1)
Microcell hybrid
(1)
Plasmid
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gene mutation panel
(1)
hybrid regional mapping panel
(1)
Affected:
Yes
(9483)
No
(7339)
At Risk
(2617)
Unknown
(1305)
Mutation Data Available:
N
(20231)
Y
(4622)
No
(10)
Source:
B-Lymphocyte
(9260)
LCL
(6985)
Whole Blood
(3636)
Fibroblast
(1009)
Skin, Arm
(975)
Skin, Unspecified
(337)
Skin, Skin
(195)
Somatic cell hybrid
(83)
Skin, Ear
(50)
Lung, Lung
(48)
Skin, Thigh
(44)
Aorta, thoracic
(39)
Skin, Abdomen
(24)
Skin, Foreskin
(23)
Amniotic fluid
(22)
Skin, Posterior iliac crest
(12)
Blood
(11)
Skin, Thorax
(9)
Skin, Buttock
(8)
Amniotic fluid-derived cell line
(7)
Skin, Back
(7)
Skin, Leg
(7)
Stem cell
(7)
Skin, Thorax/abdomen
(6)
Artery, iliac
(5)
Liver, Liver
(5)
Placental, Placenta
(5)
Skin, Buttock-thigh
(5)
Skin, Inguinal area
(5)
Skin, Sacrum
(5)
Umbilical Cord, Umbilical cord
(5)
Vein, iliac
(5)
Muscle, Unspecified
(4)
Skin, Hip
(4)
Artery, pulmonary
(3)
Breast organoid
(3)
Gonad, Ovary
(3)
Kidney, Kidney
(3)
Skin, Right ischium
(3)
Tumor-derived cell line
(3)
Aorta, abdominal
(2)
Brain striatum
(2)
Chorionic villus
(2)
Conjunctiva, Conjunctiva
(2)
Fetal, Unspecified
(2)
Gonad, Gonad
(2)
Gonad, Testes
(2)
Heart, Pericardium
(2)
Kidney
(2)
Leiomyoma
(2)
Retina of eye
(2)
Skin, Fetal
(2)
Skin, Genital area
(2)
Skin, Labialscrotal fold
(2)
Skin, Thoraco-lumbar junction
(2)
Skin, Toe
(2)
Smooth muscle
(2)
Tendon, Achilles tendon
(2)
Trachealis muscle
(2)
Tumor
(2)
Vein, umbilical
(2)
Adenocarcinoma
(1)
Adrenal cortex tumor
(1)
Aortic arch
(1)
Artery, Aorta, thoracic
(1)
Ascites fluid
(1)
Brain, Unspecified
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Chest
(1)
Chorionic villus-derived cell line
(1)
Cornea, Cornea
(1)
Endothelial
(1)
Epithelial
(1)
Ewing sarcoma
(1)
Eye
(1)
Fetal, Arm
(1)
Heart, Unspecified
(1)
Hydatidiform mole
(1)
Lens, Eye
(1)
Lung
(1)
Mesothelial
(1)
Peripheral Vein
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Polyp, Nasal
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Skin, Axilla
(1)
Skin, Breast
(1)
Skin, Calf
(1)
Skin, Embryo
(1)
Skin, Flank
(1)
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(1)
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(1)
Skin, Scalp
(1)
Skin, Shoulder
(1)
Skin, Umbilical area
(1)
Spleen, Keloid
(1)
Tumor, Abdomen
(1)
Tumor, Adenoma
(1)
Tumor, Fibroma
(1)
Sex:
Female
(13484)
Male
(11076)
Other
(15)
Race:
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(16729)
Black/African American
(1000)
More than one race
(512)
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(303)
Asian
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Chinese
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Unknown
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East Indian
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American Indian/Alaska Native
(41)
Not Reported
(30)
Asian, Other
(21)
Native Hawaiian/Other Pacific Islander
(11)
Filipino
(6)
Korean
(5)
Japanese
(2)
Vietnamese
(1)
dbGap Data Available:
No
(21778)
Yes
(3085)
Extended Clinical Data Available:
No
(15649)
Yes
(9214)
Age at Sampling (Years):
35-44
(2982)
45-54
(2776)
55-64
(2546)
25-34
(2483)
15-24
(2102)
0-4
(2093)
5-14
(2022)
65-74
(1964)
75-89
(1228)
90-99
(173)
100+
(64)
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