GM16659
LCL from B-Lymphocyte
Description:
MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2
RET PROTOONCOGENE; RET
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Heritable Cancer Syndromes and other Cancers |
|
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
|
2
|
|
Relation to Proband
|
granddaughter
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
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 |
| |
| Gene |
RET |
| Chromosomal Location |
10q11.2 |
| Allelic Variant 1 |
164761.0024; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA |
| Identified Mutation |
CYS620PHE; In a family with MEN2A, Xue et al. [Hum. Molec. Genet. 3:
635-638 (1994)] found that affected members had a TGC-to-TTC transversion
resulting in a substitution of phenylalanine for cysteine-366 (CYS366PHE).
Based on the full-length sequence of the RET gene, this mutation is cys620
to phe. |
| Remarks |
Clinically affected; the donor subject is a member of a large kindred with multiple affected individuals [BRA family (Xue et al. Hum. Molec. Genet. 3: 635-638, 1994)]; this family is unusual because of the late onset of medullary thyroid cancer, the benign course of the tumor, and the low incidence of pheochromocytoma; no parathyroid disease has been observed; affected grandmother is GM16658; one allele carries a TGC-to-TTC transversion resulting in a substitution of phenylalanine for cysteine at codon 620 [CYS620PHE (C620F)] in the RET gene. |
| Margraf RL, Mao R, Highsmith WE, Holtegaard LM, Wittwer CT, Mutation scanning of the RET protooncogene using high-resolution melting analysis Clinical chemistry52:138-41 2006 |
| PubMed ID: 16391329 |
| |
| Xue F, Yu H, Maurer LH, Memoli VA, Nutile-McMenemy N, Schuster MK, Bowden DW, Mao J, Noll WW, Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. Hum Mol Genet3(4):635-8 1994 |
| PubMed ID: 7915165 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
- |
|