Description:
CEPH/FRENCH PEDIGREE 66
|
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
|
|
Ethnicity
|
FRENCH
|
|
Family Member
|
6
|
|
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 |
| |
| Prior TW, Bayrak-Toydemir P, Lynnes TC, Mao R, Metcalf JD, Muralidharan K, Iwata-Otsubo A, Pham HT, Pratt VM, Qureshi S, Requesens D, Shen J, Vetrini F, Kalman L, Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project The Journal of molecular diagnostics : JMD23:103-110 2020 |
| PubMed ID: 33197628 |
| |
| Talal AH, Ding Y, Venuto CS, Chakan LM, McLeod A, Dharia A, Morse GD, Brown LS, Markatou M, Kharasch ED, Toward precision prescribing for methadone: Determinants of methadone deposition PloS one15:e0231467 2019 |
| PubMed ID: 32302325 |
| |
| Beckman KB, Abel KJ, Braun A, Halperin E, Using DNA pools for genotyping trios Nucleic Acids Research34(19):e129 2006 |
| PubMed ID: 17020923 |
| |
| Wu WM, Tsai HJ, Pang JH, Wang TH, Wang HS, Hong HS, Lee YS, Linear allele-specific long-range amplification: a novel method of long-range molecular haplotyping Human mutation26:393-4 2005 |
| PubMed ID: 16134125 |
| |
| Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M, Large-scale copy number polymorphism in the human genome. Science305(5683):525-8 2004 |
| PubMed ID: 15273396 |
| |
| Antson DO, Mendel-Hartvig M, Landegren U, Nilsson M, PCR-generated padlock probes distinguish homologous chromosomes through quantitative fluorescence analysis European journal of human genetics : EJHG11:357-63 2003 |
| PubMed ID: 12734539 |
|
|