Name細(xì)胞名稱：NTCC? GM24319 PRADER-WILLI SYNDROME; PWS B-Lymphocyte Cell Line
普瑞德威利綜合癥；普沃斯細(xì)胞株
Description描述：Clinically affected; diagnosed at 16 days; symptom onset at birth; mild facial dysmorphia associated with PWS; difficulty feeding after birth; hypotonia; right hip subluxation; undescended testes, pervasive developmental delay; no speech; positive methylation study; FISH confirmed karyotype iscn: 46, XY .ish cen 15(ccp15x3)mat,15q11-13(SNRPNx2); FISH study of proband錕絪 mother (not in catalog) with chr 15 probe revealed same hybridization of three D-group chromosomes as proband, indicating presence of three centromeres on chromosome 15; surgeries: orchiopexy at age 2 years; right dega pelvic osteotomy at age 3 years; medications: growth hormone.
Category分類：B-Lymphocyte
ID編號(hào):NTCC?-GM24319
Size/Quantity數(shù)量: 1 Flask/2 Vials
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT/Dry Ice
Storage儲(chǔ)存方式: RT/Liquid Nitrogen
Race: White
Age年齡:5 YR
Gender性別:Male
Cell Type細(xì)胞類型: PRADER-WILLI SYNDROME; PWS
Affected State:Yes
Product:LCL
Gene:SNRPN
Mutations突變:DEL MATERNAL EXON ALPHA
Ethnicity:
Family:
Relationship:proband
Karyotype:46,XY.arr[hg19] 15q12q22.2(26037074-61015174)x2 hmz,15q25.1q26.3(80234473-102165803)x2 hmz
Tissue Type組織來源:Blood
Complete Growth Medium完全培養(yǎng)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(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數(shù)據(jù):
References參考文獻(xiàn):

Supplier供應(yīng)商:BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
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