GM27436
LCL from B-Lymphocyte
Description:
RETT SYNDROME, CONGENITAL VARIANT
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases FOXG1 |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
Dutch
|
Country of Origin
|
NETHERLANDS
|
Family Member
|
3
|
Family History
|
N
|
Relation to Proband
|
father
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Gene |
CFTR |
Chromosomal Location |
7q31.2 |
Allelic Variant 1 |
602421.0001; CYSTIC FIBROSIS |
Identified Mutation |
PHE508DEL; Deletion of codon 508 (CTT) in exon 10 leads to deletion of phenylalanine-508 (delta-F508). |
Remarks |
Unaffected father of affected child, GM27434 (LCL); carries a mutation in the CFTR gene (NM_000492.3), c.1521_1523del (p.Phe508del) also found in the child. |
Split Ratio |
1:6 |
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 |
- |
|
|