Description:
CEPH/UTAH PEDIGREE 1463
|
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
|
11
|
|
Relation to Proband
|
daughter
|
|
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 |
| |
| Masset H, Ding J, Dimitriadou E, Debrock S, Tšuiko O, Smits K, Peeraer K, Voet T, Zamani Esteki M, Vermeesch JR, Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing Nucleic acids research50:e63 2022 |
| PubMed ID: 35212381 |
| |
| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics50:e63 2021 |
| PubMed ID: 35394024 |
| |
| Johnston AD, Simões-Pires CA, Thompson TV, Suzuki M, Greally JM, Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding Nature communications10:3472 2018 |
| PubMed ID: 31375681 |
| |
| Kim D, Paggi JM, Park C, Bennett C, Salzberg SL, Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype Nature biotechnology37:907-915 2018 |
| PubMed ID: 31375807 |
| |
| Numanagic I, Malikic S, Ford M, Qin X, Toji L, Radovich M, Skaar TC, Pratt VM, Berger B, Scherer S, Sahinalp SC, Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes Nature communications9:828 2017 |
| PubMed ID: 29483503 |
|
|