Name細胞名稱：NTCC? GM23813 CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME | DUPLICATED CHROMOSOME B-Lymphocyte Cell Line
染色體 15Q11-Q13 重復綜合癥 |重復染色體細胞株
Description描述：Clinically affected; diagnosed at 5 months of age; cortical visual impairment; high astigmatism; exotropia; cleft lip and palate with repair; camptodactyly of the third and fifth fingers; broad epicanthal folds; low, flattened nasal bridge; small muscular ventricular septal defect and small atrial septal defect, both closed by 6 months of age; mild conductive hearing loss; developmental delay; hypotonia; craniosynostosis with cranial vault remodeling; some facial asymmetry-decreased movement on the left; seizure disorder; sits with moderate support, rolls from back to left side, reflux, frequent hiccups, sleep disruption;MRI of Brain without IVC showed mild-moderate ventriculomegaly, primarily involving the lateral and third ventricles. Bilateral middle cranial fossa arachnoid cysts, left greater than right; uses braces, orthotics and wheelchair; uses Bipap to treat sleep apnea; wears glasses and has intermittent strabismus; antiseizure medication and lactogenic diet; arr CGH result: 15q11.2 (RP11-385H1->RP1114I12)x3
Category分類：B-Lymphocyte
ID編號:NTCC?-GM23813
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:4 YR
Gender性別:Male
Cell Type細胞類型: CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME | DUPLICATED CHROMOSOME
Affected State:Yes
Product:LCL
Gene:
Mutations突變:
Ethnicity:SOUTH AMERICAN/SPANISH/GERMAN
Family:
Relationship:proband
Karyotype:46,XY.arr 15q11.2q13.1(21192942-26752944)x3
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: BioVector? Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
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