Description:
CEPH/UTAH PEDIGREE 1423
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
CEPH Repository Linkage Families |
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
|
Ethnicity
|
UTAH/MORMON
|
Family Member
|
10
|
Relation to Proband
|
son
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Dias C, Elzein S, Sladek R, Goodyer CG, Sex-specific effects of a microsatellite polymorphism on human growth hormone receptor gene expression Molecular and cellular endocrinology492:110442 2018 |
PubMed ID: 31063794 |
|
Wong KK, Deleeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, Horsman DE, Macaulay C, Ng RT, Brown CJ, Eichler EE, Lam WL, A comprehensive analysis of common copy-number variations in the human genome American journal of human genetics80:91-104 2006 |
PubMed ID: 17160897 |
|
Pastinen T, Sladek R, Gurd S, Sammak A, Ge B, Lepage P, Lavergne K, Villeneuve A, Gaudin T, Brandstrom H, Beck A, Verner A, Kingsley J, Harmsen E, Labuda D, Morgan K, Vohl MC, Naumova AK, Sinnett D, Hudson TJ, A survey of genetic and epigenetic variation affecting human gene expression. Physiol Genomics16(2):184-93 2004 |
PubMed ID: 14583597 |
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