GM25253
LCL from B-Lymphocyte
Description:
CHROMOSOME DELETION
ANAPHASE-PROMOTING COMPLEX, SUBUNIT 7; ANAPC7
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities Heritable Diseases |
Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
|
Blood
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Transformant
|
Epstein-Barr Virus
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Sample Source
|
LCL from B-Lymphocyte
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Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
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Ethnicity
|
Amish
|
Country of Origin
|
USA
|
Family Member
|
2
|
Family History
|
Y
|
Relation to Proband
|
mother
|
Confirmation
|
Karyotypic analysis before cell line submission to CCR
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ISCN
|
46,XX.arr[hg19] 12q24.11(110,824,470-110,826,300)x1. Heterozygous for 8054 bp deletion of ANAPC7 gene 1 by Affy CytoScan HD array
|
Species
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Homo sapiens
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Common Name
|
Human
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Remarks
|
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Unaffected carrier; heterozygous for 8054 bp deletion (exon 4) in ANAPC7, resulting in deletion of exons 4, 5 and 6; characterized by Affymetrix Cytoscan HD array using genome build hg19 (UCSC) = build 36 (NCBI), and exact breakpoints determined by Sanger sequencing; affected daughter is GM25252. |
Ferguson CJ, Urso O, Bodrug T, Gassaway BM, Watson ER, Prabu JR, Lara-Gonzalez P, Martinez-Chacin RC, Wu DY, Brigatti KW, Puffenberger EG, Taylor CM, Haas-Givler B, Jinks RN, Strauss KA, Desai A, Gabel HW, Gygi SP, Schulman BA, Brown NG, Bonni A, APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain Molecular cell82:90-105.e13 2020 |
PubMed ID: 34942119 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
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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