GM10228
LCL from B-Lymphocyte
Description:
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT
ENDOGLIN; ENG
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
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 |
| |
| Gene |
ENG |
| Chromosomal Location |
9q34.1 |
| Allelic Variant 1 |
disrupts 3’ splice site; HEREDITARY HEMORRHAGIC TELANGIECTASIA |
| Identified Mutation |
1311G>C |
| Remarks |
Deceased father, grandfather, greatgrandmother, greatgreatgrandmother, & 2 brothers have HHT; the donor subject carries a G-to-C nucleotide substitution at position 1311 (G1311C) of the ENG gene which creates a splice site mutation within the last coding base of exon 9B. |
| Gallione CJ, Klaus DJ, Yeh EY, Stenzel TT, Xue Y, Anthony KB, McAllister KA, Baldwin MA, Berg JN, Lux A, Smith JD, Vary CP, Craigen WJ, Westermann CJ, Warner ML, Miller YE, Jackson CE, Guttmacher AE, Marchuk DA, Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. Hum Mutat11(4):286-94 1998 |
| PubMed ID: 9554745 |
| |
| McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA, Markel DS, Zolotor A, McKinnon WC, Vanderstoep JL, et al, A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet6(2):197-204 1994 |
| PubMed ID: 8162075 |
| dbSNP |
dbSNP ID: 20547 |
| Gene Cards |
ENG |
| Gene Ontology |
GO:0005515 protein binding |
|
GO:0005887 integral to plasma membrane |
|
GO:0007155 cell adhesion |
|
GO:0008015 circulation |
|
GO:0009887 organogenesis |
| NCBI Gene |
Gene ID:2022 |
| NCBI GTR |
131195 ENDOGLIN; ENG |
|
187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 |
| OMIM |
131195 ENDOGLIN; ENG |
|
187300 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 |
| Omim Description |
ORW DISEASE |
| |
OSLER-RENDU-WEBER DISEASE |
| |
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER;HHT |
| |
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE I; HHT1 |
| Split Ratio |
1:2 |
| 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 |
- |
|
|