GM25592
LCL from B-Lymphocyte
Description:
POTOCKI-LUPSKI SYNDROME; PTLS
EHLERS-DANLOS SYNDROME, TYPE I; EDS1
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
|
5
|
Family History
|
N
|
Relation to Proband
|
half-sister
|
Confirmation
|
Karyotypic analysis and Case history
|
ISCN
|
46,XX[25].arr Xp22.31(6,455,150-8,135,645)x3
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically affected maternal half sister of affected sibling (GM25580); clinical findings show subject has Ehlers-Danlos syndrome; hypermobility; elastic skin; easy bruising; skin fragility; extra teeth; extreme flexibility; occular migraines; scoliosis; dilated aorta; postural tachycardia syndrome (POTS); long QT syndrome; clinical reports find delXp22.31; learning disability; obsessive compulsive disorder; sleep apnea; noted family history of miscarriages and cardiovascular manifestations (aortic ruptures or replacements); other family in the repository include: mother (GM25581), father (GM25582), and brother (GM25583). |
Girirajan S, Williams S, Garbern J, Nowak N, Hatchwell E, Elsea S, 17p112p12 triplication and del(17)q112q12 in a severely affected child with dup(17)p112p12 syndrome Clinical genetics72:47-58 2007 |
PubMed ID: 17594399 |
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 |
- |
|
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