GM16372
LCL from B-Lymphocyte
Description:
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD; SANJAD-SAKATI SYNDROME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Other Disorders of Known Biochemistry |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
Black/African American
|
Ethnicity
|
GAMBIAN
|
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 |
|
Remarks |
Clinically affected; microcephaly; mental and growth retardation; unusual facies; hypoparathyroidism; sister is also affected; product of consanguineous marriage |
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 |
- |
|
|