GM25428智力低下，常染色体显性遗传 1； MRD1 |染色体缺失 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25428 MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1 | CHROMOSOME DELETION B-Lymphocyte Cell Line
智力低下，常染色体显性遗传 1； MRD1 |染色体缺失细胞株
Description描述：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.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25428
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:5 YR
Gender性别:Female
Cell Type细胞类型: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1 | CHROMOSOME DELETION
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:Italian/Puerto Rican (mother), Caucasian (father)
Family:
Relationship:proband
Karyotype:46,XX.arr[hg19]2q22.3q23.3(148503782-153931177)x1
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
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