GM25487
LCL from B-Lymphocyte
Description:
CHROMOSOME 16P12.1 DELETION SYNDROME
|
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
|
AUSTRALIA
|
|
Family Member
|
6
|
|
Family History
|
Y
|
|
Relation to Proband
|
maternal cousin
|
|
Confirmation
|
Karyotypic analysis and Case history
|
|
ISCN
|
46,XY.arr[hg19]16p12.2(21,807,854-22,442,008)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Affected cousin of affected proband (GM25474); positive for 16p12.1 deletion; dysmorphic features; respiratory problems; sleep problems (wake up at night, sleep walk, seek food); obsessive compulsive disorder; ASD; ADHD (attention deficit disorder, hyperactive at 5 years old); aggression; son of affected mother GM25488 and unaffected father GM25489; affected brother is GM25486; see extended family 3237; PMID 30190612. |
| Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S, Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants Genetics in medicine : official journal of the American College of Medical Genetics: 2018 |
| PubMed ID: 30190612 |
| 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 |
- |
|
|