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Search Results for -
XERODERMA PIGMENTOSUM WITH NORMAL DNA REPAIR RATES
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Also searched for:
PHOTOSENSITIVITY WITH DEFECTIVE DNA SYNTHESIS
XERODERMA PIGMENTOSUM, VARIANT TYPE
XPV
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Repository:
NINDS Repository
(53782)
NIGMS Human Genetic Cell Repository
(18170)
NHGRI Sample Repository for Human Genetic Research
(7471)
NIA Aging Cell Culture Repository
(4288)
AREDS
(2931)
AREDS2
(1988)
Autism
(362)
HD Community Biorepository
(175)
Centers for Disease Control and Prevention Repository
(27)
CIMR Research
(3)
Allen Cell Collection
(1)
Human Reference Genetic Material Repository
(1)
Collection:
Cerebrovascular Disease
(13923)
Heritable Diseases
(11585)
Control
(10712)
Parkinsonism
(9367)
Epilepsy
(7702)
NHGRI Sample Repository for Human Genetic Research
(7471)
Motor Neuron Disease
(5555)
Tourette Syndrome
(4382)
Dystonia
(3979)
Chromosome Abnormalities
(2906)
Human Variation
(1903)
CEPH
(1623)
Apparently Healthy Collection
(1622)
dbGaP
(1328)
PIGI Consented Sample
(1287)
Old Order Amish Major Affective Disorder
(1009)
University of Georgia Centenarian Study
(853)
Repository Linkage Families
(816)
GRC
(784)
Lysosomal Storage Diseases
(755)
Hybrids
(572)
Muscular Dystrophies
(545)
GeT-RM Samples
(513)
Animals
(499)
Michigan
(400)
Hereditary Cancers
(391)
Massachusetts
(372)
Pharmacogenetics
(334)
The 90+ Study
(331)
Maryland
(321)
Georgia
(311)
Illinois
(277)
CMD Specific
(268)
Pennsylvania
(266)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(260)
Alzheimer's Disease
(251)
Venezuelan Huntington Disease
(250)
Canadian Alzheimer Disease
(226)
Disorders of the Urea Cycle
(225)
Maturity-Onset Diabetes of the Young
(222)
Retinitis Pigmentosa Foundation Collection
(195)
Italian Alzheimer Disease
(120)
Nonhuman Primates
(112)
German Alzheimer Disease
(99)
FOXG1
(93)
Stem Cell Collection
(87)
Aged Sib Pairs
(73)
DGAP
(72)
Whole-Genome Sequence
(51)
Ames Dwarf Mice
(47)
Alzheimer Disease With No Family History
(31)
Apparently healthy iPSCs
(16)
Non-Healing Wound Collection
(16)
Engineered Cell Cultures
(15)
Oregon
(14)
Wisconsin
(13)
Gene-Edited hiPSC
(11)
Specially Characterized Fibroblasts
(11)
Frontotemporal Degeneration
(6)
New York
(3)
Prostate Cancer
(3)
Johns Hopkins University
(2)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Product:
DNA
(57357)
LCL
(25928)
Fibroblast
(4827)
Somatic cell hybrid
(320)
Plasmid
(164)
iPSC
(136)
mESC
(87)
High Molecular Weight DNA
(74)
96 well plate of DNA samples
(61)
Smooth muscle
(61)
Endothelial
(47)
Amniotic fluid-derived cell line
(23)
Preprocessed DNA
(21)
Epithelial
(15)
Tumor-derived cell line
(15)
Neuronally-derived
(10)
Hybridoma
(7)
Myeloma
(7)
aging mapping panel
(7)
DNA sample pool
(6)
Adipose stromal cell
(5)
Mesothelial
(4)
hybrid mapping panel
(3)
Chorionic villus-derived cell line
(2)
Erythroleukemic cell line
(2)
Kidney-derived cell line
(2)
Cytoplasmic transfer (cybrid)
(1)
FFPE
(1)
Keratinocyte
(1)
Melanocyte
(1)
Microcell hybrid
(1)
Protein
(1)
gene mutation panel
(1)
Affected:
Yes
(47381)
No
(18839)
At Risk
(6118)
Unknown
(3164)
Mutation Data Available:
N
(83163)
Y
(5958)
No
(78)
Source:
Whole Blood
(31005)
B-Lymphocyte
(26266)
LCL
(22622)
Fibroblast
(1552)
Skin, Arm
(1071)
Skin, Unspecified
(487)
Somatic cell hybrid
(251)
Skin, Skin
(229)
Lung, Lung
(106)
Skin, Ear
(65)
Skin, Thigh
(65)
Skin, Foreskin
(61)
Aorta, thoracic
(57)
Skin, Abdomen
(27)
Amniotic fluid
(23)
Amniotic fluid-derived cell line
(23)
Blood
(21)
Fetal, Unspecified
(12)
Skin, Leg
(12)
Skin, Posterior iliac crest
(12)
Trachealis muscle
(12)
Vein, iliac
(11)
Brain striatum
(10)
Gonad, Gonad
(10)
Skin, Thorax
(10)
Skin, Thorax/abdomen
(10)
Artery, iliac
(9)
Artery, pulmonary
(9)
Skin, Buttock
(9)
Umbilical Cord, Umbilical cord
(9)
Skin, Back
(8)
Skin, Buttock-thigh
(8)
Skin, Inguinal area
(8)
Skin, Sacrum
(8)
Whole embryo, Embryo
(8)
Gonad, Ovary
(7)
Breast organoid
(6)
Muscle, Unspecified
(6)
Conjunctiva, Conjunctiva
(5)
Epithelial
(5)
Liver, Liver
(5)
Placental, Placenta
(5)
Retina of eye
(5)
Skin, Fetal
(5)
Skin, Hip
(5)
Skin, Right ischium
(5)
Embryonal carcinoma
(4)
Eye
(4)
Gingival, Gum
(4)
Stem cell
(4)
Chorionic villus-derived cell line
(3)
Gonad, Testes
(3)
Kidney, Kidney
(3)
Leiomyoma
(3)
Skin, Genital area
(3)
Skin, Toe
(3)
Smooth muscle
(3)
Tumor-derived cell line
(3)
Amnion, Amnion
(2)
Aorta, abdominal
(2)
Aortic arch
(2)
Ascites fluid
(2)
Bladder carcinoma
(2)
Chorionic villus
(2)
Endometrial, Uterus
(2)
Heart, Pericardium
(2)
Kidney
(2)
Lung
(2)
Mesothelial
(2)
Skin, Calf
(2)
Skin, Chest
(2)
Skin, Labialscrotal fold
(2)
Skin, Neck
(2)
Skin, Shoulder
(2)
Skin, Thoraco-lumbar junction
(2)
Skin, Umbilical area
(2)
Spleen, Keloid
(2)
T-Lymphocyte
(2)
Tendon, Achilles tendon
(2)
Tumor
(2)
Tumor, Fibroma
(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)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Chest
(1)
Cornea, Cornea
(1)
Endothelial
(1)
Ewing sarcoma
(1)
Fetal, Arm
(1)
Heart, Unspecified
(1)
Lens, Eye
(1)
Sex:
Female
(45055)
Male
(41929)
Other
(26)
Race:
White
(59561)
Black/African American
(7563)
More than one race
(1676)
Asian
(1285)
Other
(1066)
Unknown
(785)
Hispanic/Latino
(375)
Caucasian
(317)
American Indian/Alaska Native
(292)
Asiatic Indian
(254)
Chinese
(217)
Native Hawaiian/Other Pacific Islander
(102)
Not Reported
(68)
East Indian
(62)
Asian, Other
(29)
Filipino
(10)
Korean
(6)
Japanese
(3)
Vietnamese
(3)
dbGap Data Available:
No
(72973)
Yes
(16226)
Extended Clinical Data Available:
Yes
(54530)
No
(34669)
Age at Sampling (Years):
55-64
(12510)
45-54
(11405)
65-74
(10838)
35-44
(9064)
25-34
(6678)
75-89
(6634)
5-14
(5894)
15-24
(5474)
0-4
(3671)
90-99
(756)
100+
(240)
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