Name細胞名稱：NTCC? GM28214 CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 Skin, Skin Cell Line
腦肌酸缺乏綜合癥 1； CCD1細胞株
Description描述：Unaffected; affected child is GM27448 (fibro) and GM27857 (stem cell); whole genome sequencing of the child revealed an X-linked hemizygous mutation in SLC6A8 CHRX:152959835-152960127, novel variant for which this father is negative; carrier of a pathogenic heterozygous variant in exon 3 of the CFTR gene (NM_000492): c.223C>T (p.R75X), rs121908749; the following are variants of uncertain significance (VUS) in the child for which the father is heterozygous: C3ORF20 Chr3:14798910 novel variant; GNL2 Chr1:38038959 novel variant; KRBA1 Chr7:149421739, rs376784656; SSPO Chr7:149513111, rs200844215; TAF5 Chr10:105139477, rs1424510902; ZNF746 Chr7:149171484.
Category分類：Fibroblast
ID編號:NTCC?-GM28214
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: Asian
Age年齡:41 YR
Gender性別:Male
Cell Type細胞類型: CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
Affected State:No
Product:Fibroblast
Gene:CFTR
Mutations突變:ARG75TER
Ethnicity:South Asian, Indian
Family:3486
Relationship:father
Karyotype:
Tissue Type組織來源:Skin
Complete Growth Medium完全培養基: 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
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