GM09948
LCL from B-Lymphocyte
Description:
CHROMOSOME DELETION
APPARENTLY HEALTHY INDIVIDUAL
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
| Alternate IDs |
GM17235 [CHROMOSOME DELETION] |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Family Member
|
3
|
|
Relation to Proband
|
father
|
|
Confirmation
|
Karyotypic analysis and Case history
|
|
ISCN
|
46,XY[20]
|
|
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 and by Chromosome Analysis |
| |
| Remarks |
Father of a boy with del(8); spouse of GM09947A; 46,XY; 4% of cells show random chromosome loss/gain |
| Hernandez AL, Wang Y, Somerset HL, Keysar SB, Aisner DL, Marshall C, Bowles DW, Karam SD, Raben D, Jimeno A, Varella-Garcia M, Wang XJ, Inter- and intra-tumor heterogeneity of SMAD4 loss in head and neck squamous cell carcinomas Molecular carcinogenesis58:666-673 2018 |
| PubMed ID: 30575147 |
| |
| Mulero JJ, Chang CW, Lagacé RE, Wang DY, Bas JL, McMahon TP, Hennessy LK, Development and validation of the AmpFlSTR MiniFiler PCR Amplification Kit: a MiniSTR multiplex for the analysis of degraded and/or PCR inhibited DNA Journal of forensic sciences53:838-52 2008 |
| PubMed ID: 18540972 |
| |
| Atwal GS, Bond GL, Metsuyanim S, Papa M, Friedman E, Distelman-Menachem T, Ben Asher E, Lancet D, Ross DA, Sninsky J, White TJ, Levine AJ, Yarden R, Haplotype structure and selection of the MDM2 oncogene in humans Proceedings of the National Academy of Sciences of the United States of America104:4524-9 2007 |
| PubMed ID: 17360557 |
| |
| Mulero JJ, Chang CW, Calandro LM, Green RL, Li Y, Johnson CL, Hennessy LK, Development and validation of the AmpFlSTR Yfiler PCR amplification kit: a male specific, single amplification 17 Y-STR multiplex system Journal of forensic sciences51:64-75 2006 |
| PubMed ID: 16423225 |
| |
| Rodig H, Roewer L, Gross A, Richter T, de Knijff P, Kayser M, Brabetz W, Evaluation of haplotype discrimination capacity of 35 Y-chromosomal short tandem repeat loci Forensic science international174:182-8 2006 |
| PubMed ID: 17543484 |
| |
| Harris SL, Gil G, Robins H, Hu W, Hirshfield K, Bond E, Bond G, Levine AJ, Detection of functional single-nucleotide polymorphisms that affect apoptosis Proceedings of the National Academy of Sciences of the United States of America102:16297-302 2005 |
| PubMed ID: 16260726 |
| |
| 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 |
| |
| Hering S, Brundirs N, Kuhlisch E, Edelmann J, Plate I, Benecke M, Van PH, Michael M, Szibor R, DXS10011: studies on structure, allele distribution in three populations and genetic linkage to further q-telomeric chromosome X markers International journal of legal medicine118:313-9 2004 |
| PubMed ID: 15248074 |
| |
| 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 |
| |
| Fregeau CJ, Aubin RA, Elliott JC, Gill SS, Fourney RM, Characterization of human lymphoid cell lines GM9947 and GM9948 as intra- and interlaboratory reference standards for DNA typing. Genomics28:184-97 1995 |
| PubMed ID: 8530025 |
| |
| Fregeau CJ, Fourney RM, DNA typing with fluorescently tagged short tandem repeats: a sensitive and accurate approach to human identification. Biotechniques15:100-19 1993 |
| PubMed ID: 8103347 |
| Split Ratio |
1:4 |
| 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 |
| Supplement |
- |
|
|