Description:
APPARENTLY HEALTHY INDIVIDUAL
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Apparently Healthy Collection |
Class |
Disorders of the Nervous System |
Alternate IDs |
GM17268 [APPARENTLY HEALTHY INDIVIDUAL] |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis and Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Remarks |
46,XY; 8% of cells show random chromosome loss/gain |
Bakhoum SF, Ngo B, Laughney AM, Cavallo JA, Murphy CJ, Ly P, Shah P, Sriram RK, Watkins TBK, Taunk NK, Duran M, Pauli C, Shaw C, Chadalavada K, Rajasekhar VK, Genovese G, Venkatesan S, Birkbak NJ, McGranahan N, Lundquist M, LaPlant Q, Healey JH, Elemento O, Chung CH, Lee NY, Imielenski M, Nanjangud G, Pe'er D, Cleveland DW, Powell SN, Lammerding J, Swanton C, Cantley LC, Chromosomal instability drives metastasis through a cytosolic DNA response Nature: 2017 |
PubMed ID: 29342134 |
|
Sotamaa K, Liyanarachchi S, Mecklin JP, Järvinen H, Aaltonen LA, Peltomäki P, de la Chapelle A, p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome Clinical cancer research : an official journal of the American Association for Cancer Research11:6840-4 2005 |
PubMed ID: 16203772 |
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