GM13441 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM13441 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME Cell Line
SHPRINTZEN-GOLDBERG 颅缝早闭综合征细胞株
Description描述：Clinically affected; product of uncomplicated pregnancy; obstructive apnea and failure to thrive requiring tracheostomy and gastrostomy; brachyturricephaly, ocular proptosis with downslanting palpebral fissures and hypertelorism, low-set posteriorly rotated pinna with flattened helices, highly palate, pectus excavatum, and arachnodactyly of fingers and toes and bilateral simian creases; craniosynostosis; mental retardation; camptodactyly; micrognathia; 3D CT scan showed partial fusion of the coronal, lambdoidal, and sagittal sutures and thickening of the skull with widened diploic spaces and ventriculomegaly; Chiari decompression at age 5, suboccipital craniectomy and C1 laminectomy for a C1 subluxation; several orthopedic procedures for dislocation of the right hip and flexion contractures of the digits; non-verbal and wheel-chair bound; scoliosis; normal male karyotype; sequence analysis of all FBN1, TGFBR1, and TGFBR2 coding exons and exon boundaries did not reveal any disease-causing variations; a variant was found in FBN1 exon 35 (c.4441A>G, Ser1481Gly), of which the clinical significance is not known; see Patient 1 in publication by Shanske, et al (PMID: 22639450); affected half-sister is GM18180.
Category分类：Fibroblast
ID编号:NTCC®-GM13441
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:14 YR
Gender性别:Male
Cell Type细胞类型: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Affected State:Yes
Product:Fibroblast
Gene:FBN1
Mutations突变:SER1481GLY
Ethnicity:
Family:3003
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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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