Description:
PERSONAL GENOME PROJECT
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Apparently Healthy Collection
PIGI Consented Sample
Whole-Genome Sequence |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Race
|
Chinese
|
|
Family Member
|
3
|
|
Family History
|
N
|
|
Relation to Proband
|
mother
|
|
ISCN
|
46,XX[25].arr(1-22,X)x2
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remark |
Participant (hu38168C) in the Personal Genome Project: http://www.personalgenomes.org;
osteopenia; heterozygous AP3B1 gene variant c.280-6dupT (Chr 5, genomic start 77524069, transcript NM_003664.4); heterozygous PRKAR1A gene variant c.349-5dupT (Chr 17, genomic start 66519861, transcript NM_002734.4); heterozygous STAT3 gene variant c.1601-8dupT (Chr 17, genomic start 40475651, transcript NM_139276.2); medication: Fosamax; mother of GM24631 (lymph) / GM26107 (stem cell); father is GM24694 (lymph); whole genome sequence data is available on the PGP website. |
| Fujiki R, Ikeda M, Ohara O, Short DNA Probes Developed for Sample Tracking and Quality Assurance in Gene Panel Testing The Journal of molecular diagnostics : JMD: 2019 |
| PubMed ID: 31445212 |
| |
| Mao Q, Ciotlos S, Zhang RY, Ball MP, Chin R, Carnevali P, Barua N, Nguyen S, Agarwal MR, Clegg T, Connelly A, Vandewege W, Zaranek AW, Estep PW, Church GM, Drmanac R, Peters BA., The whole genome sequences and experimentally phased haplotypes of over 100 personal genomes. Gigascience.5(1):42 2016 |
| PubMed ID: 27724973 |
| |
| Church GM, The personal genome project. Mol Syst Biol.1, 2005.0030:42 2005 |
| PubMed ID: 16729065 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
|
|