GM25488
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
|
7
|
Family History
|
Y
|
Relation to Proband
|
maternal aunt
|
Confirmation
|
Karyotypic analysis and Case history
|
ISCN
|
46,XX.arr[hg19]16p12.2(21,807,854-22,442,008)x1
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Species
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Homo sapiens
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Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Affected aunt of proband (GM25474); positive for 16p12.1 deletion; depression; anxiety; history of delusions; sleeping problems; difficulties in school; trouble concentrating; ADHD; mother of two affected sons, GM25486 and GM25487; spouse is GM25489; 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 |
1:3 |
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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