GM03813 SPINAL MUSCULAR ATROPHY, TYPE II; SMA2 | SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1 Skin, Arm Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM03813 SPINAL MUSCULAR ATROPHY, TYPE II; SMA2 | SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1 Skin, Arm Cell Line
脊髓性肌肉萎缩症，II 型； SMA2 |运动神经元 1 的存活，端粒； SMN1细胞株
Description描述：Clinically affected; born after full term uncomplicated pregnancy; rolled over at 6 months old; began babbling at 9 months old; by 12 months old, there was marked muscle atrophy and weakness; absent deep tendon reflexes; constipation; donor subject has 3 copies of the SMN2 gene (data from several sources including Stabley et al. 2015, PMID 26247043); PCR analysis showed that this donor subject is homozygous for the deletion of exons 7 and 8 in the SMN1 gene; similarly affected brother (not in repository); mother is GM03814 (Fibro)/GM24474 (iPSC); father is GM03815 (Fibro); see GM23240 (iPSC - lentiviral) and GM24468 (iPSC - episomal); previously classified as SMA I, but data such as onset features and SMN2 dosage in the proband supported re-classification to SMA II.
Category分类：Fibroblast
ID编号:NTCC®-GM03813
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:3 YR
Gender性别:Male
Cell Type细胞类型: SPINAL MUSCULAR ATROPHY, TYPE II; SMA2 | SURVIVAL OF MOTOR NEURON 1, TELOMERIC; SMN1
Affected State:Yes
Product:Fibroblast
Gene:SMN1
Mutations突变:EX7-8DEL
Ethnicity:
Family:553
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
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:

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