GM27632
LCL from B-Lymphocyte
Description:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
Hispanic/Latino
|
|
Ethnicity
|
El Salvadorian
|
|
Country of Origin
|
USA
|
|
Family Member
|
2
|
|
Family History
|
N
|
|
Relation to Proband
|
mother
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Unaffected mother of affected child (GM27630, lymph); variants of unknown significance reported in the child and in this mother are: c.2456A>G (p.ASP819GLY) in CNKSR2; c.8045+9G>C in HERC1, rs1187530843; c.3512A>G (p.ASN1171SER) in HUWE1, rs781988279; c.6146C>T (p.PRO2049LEU) in KMT2C, rs776261953. |
| 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 |
- |
|
|