GM25588
LCL from B-Lymphocyte
Description:
POTOCKI-LUPSKI SYNDROME; PTLS
DUPLICATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases 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
|
Hispanic/Latino
|
Ethnicity
|
Hispanic/Latino
|
Ethnicity
|
Puerto Rican
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis and Case history
|
ISCN
|
46,XY,dup(17)(p11.2p11.2)[14]/46,XY[11].arr 17p11.2(16,709,534-18,319,850)x3, 17p11.2(18,474,633-20,338,446)x3
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically affected; diagnosed by geneticist; failure to thrive; hypotonia; small leak in aortic triad; irregular body temperature; allergy to anesthesia (develops high fevers); fine motor delay; gross motor delay; speech delay; learning disability; unaffected mother is GM25589; siblings are unaffected (not in repository). |
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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