GM25586
LCL from B-Lymphocyte
Description:
POTOCKI-LUPSKI SYNDROME; PTLS
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities 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
|
Country of Origin
|
USA
|
Family Member
|
2
|
Family History
|
N
|
Relation to Proband
|
mother
|
Confirmation
|
Karyotypic analysis and Case history
|
ISCN
|
46,XX[25].arr[hg19] 17p11.2(16,709,534-20,433,857)x3
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically affected mother of affected child (GM25585); diagnosed by neurologist at age 36 years; left eye esotropia corrected by surgery; seizures as a child; migraines; ventricular septal defect (VSD); constipation; gross motor delay; speech delay; autism; intellectual disability; received special education in school; unaffected parents are GM25593 and GM25594. |
Split Ratio |
1:5 |
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 |
- |
|
|