GM21681
LCL from B-Lymphocyte
Description:
DERIVATIVE CHROMOSOME
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities dbGaP |
Biopsy Source
|
Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
|
Transformant
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Epstein-Barr Virus
|
Sample Source
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LCL from B-Lymphocyte
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Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XX,der(6)t(Y;6)(p11.2;p24).ish der(6)t(Y;6)(p11.2;p24)(6PTEL48-,SRY+).arr Yp11.31p11.2(2710425-4401114)x1,6p25.3p24.3(94648-10140080)x1
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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Cytogenetics |
Chromosome 6: DERIVATIVE CHROMOSOME Aneuploid Segment (-)6pter>6p23 |
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Chromosome Y: DERIVATIVE CHROMOSOME Aneuploid Segment (-)(Yp11.2>Yqter) |
Remarks |
Phenotypic male; karyotypically female; growth retardation; Dandy-Walker malformation; cardiac and urogenital abnormalities; bilateral hearing loss; cleft palate; severe kyphoscoliosis; minor digital anomalies; hypoplastic phallus; dolichocephaly; hypertelorism; down-slanting palpebral fissures; depressed nasal bridge; tented upper lip |
Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
PubMed ID: 35039224 |
|
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
PubMed ID: 23665875 |
|
Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A, Case report: Y;6 translocation with deletion of 6p Clinical dysmorphology14:93-6 2005 |
PubMed ID: 15770132 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
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