GM25428
LCL from B-Lymphocyte
Description:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1
CHROMOSOME DELETION
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities PIGI Consented Sample |
Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
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Sample Source
|
LCL from B-Lymphocyte
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Race
|
White
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Ethnicity
|
Not Hispanic/Latino
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Ethnicity
|
Italian/Puerto Rican (mother), Caucasian (father)
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Country of Origin
|
USA
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
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ISCN
|
46,XX.arr[hg19]2q22.3q23.3(148503782-153931177)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
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Remarks
|
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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Remarks |
Clinically affected with chromosome 2q23.1 deletion syndrome; onset of symptoms at birth; diagnosed at 7 months of age as confirmed by geneticist; pregnancy complicated with preeclampsia, hypertension, and proteinuria in last week prior to delivery; as newborn child, subject experienced apneic episode associated with cyanosis, limpness of body, and seizures, noted to have a two vessel cord; microcephaly; broad and prominent forehead; slightly down slanted palpebral fissures; depressed nasal bridge with an upturned tip; upper lip is bowed with the mouth open at rest; tapered fingertips with short fifth fingers and short first metacarpal bones causing proximal placement of the thumbs; mild clubbing of toenails; slightly increased hair on back and legs; right foot turned inward; truncal hypotonia; history of growth and developmental delays; slow weight gain despite reported hyperphagia; farsightedness; seizures; bruxism; karyotype is 46,XX; submitted array CGH and microarray results confirm heterozygous de novo deletion of 5.4 megabases on chromosome 2q22.3q23.3(148,225,930-153,627,236)x1 (hg18-build 36.3); assistive devices include: glasses, orthotics(AFOs), and gait trainer; wears a helmet at school because of intermittent falling; therapies include: physical, occupational, and speech therapy; medications include: Keppra, Trileptal, Diastat, Clonazepam, and Zantac; surgeries include: tonsillectomy/adenoidectomy and pressure equalizer tubes. |
Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME, Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities Molecular psychiatry19:368-79 2012 |
PubMed ID: 23587880 |
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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