GM23357特纳综合症|非整倍体染色体数 - 三体 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23357 TURNER SYNDROME | ANEUPLOID CHROMOSOME NUMBER - TRISOMY B-Lymphocyte Cell Line
特纳综合症|非整倍体染色体数 - 三体性细胞株
Description描述：Subject diagnosed with Mosaic Turner syndrome and trisomy 7q at approximately 1 year of age; 20 week ultrasound revealed enlarged ventricles, mother had premature rupture of membranes at 32 weeks, subject was born at 34 weeks with numerous neonatal problems: temperature dysregulation, initial hypoglycemia, shallow breathing, hyperbilirubinemia requiring phototherapy and significant feeding problems requiring NG tube; discharged at 23 days old; Dysmorphic features include: very fair translucent skin; easily visible vasculature; macrocephaly; high broad forehead; bitemporal narrowing; bony protuberance over the occiput; underdeveloped orbital ridges; delayed closure of anterior fontanel; synophyrs-central brow lighter in pigmentation; hypertelorism; upturned nose tip; low set ears; under bite; high arched palate; delayed dentition; bifid uvula; small sublingual frenulum; neck mildly short; pectus excavatum-chest relatively narrow; palpable spleen tip about 1 cm below left costal margin; significant scoliosis (thoraco-lumbar); prominence of the right paraspinal region when bending forward in sitting position; shallow sacral dimple; downy pubic hair; hyperextension of ankles and elbows; left hand clinodactyly with 1 palmar crease; right hand clinodactyly with 1 palmar crease; right leg bulkier than left; prominent heels with pes planus; broad first toes; small gap between the 4th and 5th toes; developmental delay; motor delay; hyptonia; arching noted at 4 months; flaps hands when excited; clenches fists; protrudes tongue at rest; tendency to point toes when supine, hyperextension of ankles; head lag; varied muscle tone; long history of constipation; history of serous otitis media; eustachian tube dysfunction; snoring; chronic rhinitis; tonsillar and adenoid disturbance; history of intermittent 锟絟eavy breathing锟?while sleeping; mouth breathing; abnormal female karyotype: 46,X,der(X)t(X;7)(24).ish 7q11.23 (ELN-)[24]/45,X[6]; XIST gene determined to be on the derivative X chromosome by XIST-containing BAC FISH probe; normal MRI; normal abdominal ultrasound, pelvic ultrasound and renal ultrasound; head x-ray revealed enlargement of the adenoidal soft tissues; echocardiogram revealed very mild prolapse of the anterior leaflet of the mitral valve and a prominence of the septum in the sub-aortic region with no LV outflow obstruction; assistive devices includes orthotics (DAFO锟絪); treatments include early intervention, physical, speech, and occupational therapy; communicates using sign language._x000D_
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23357
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: TURNER SYNDROME | ANEUPLOID CHROMOSOME NUMBER - TRISOMY
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:POLISH/YUGOSLAVIAN/IRISH/ITALIAN
Family:
Relationship:proband
Karyotype:46,X,der(X)t(X;7)(q21;q21)[23]/45,X[2].arr[hg19] Xq21.1q28(77132688-155233846)x1,7q21.12q36.3(87311679-159119708)x3
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
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