GM21654
LCL from B-Lymphocyte
Description:
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2
CENTROSOMAL PROTEIN, 57-KD; CEP57
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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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
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Ethnicity
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Hispanic/Latino
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Ethnicity
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MEXICAN
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis before cell line submission to CCR
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ISCN
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45-50,XY,+X[2],-Y[1],-2[1],-5[1],+5[2],+6[1],+7[1],+9[1],+13[1],+14[2],+15[2],+21[1],+22[1],+mar[1][cp50]
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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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| Gene |
CEP57 |
| Chromosomal Location |
11q21 |
| Allelic Variant 1 |
607951.0001; MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2 |
| Identified Mutation |
c.520_521del (p.Glu174fs) |
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| Gene |
CEP57 |
| Chromosomal Location |
11q21 |
| Allelic Variant 2 |
607951.0002; MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2 |
| Identified Mutation |
c.915_925dup (p.Leu309fs) |
| Remarks |
Laringeal stridor without respiratory distress was noted at birth; laryngoscopy revealed a laryngeal cyst; hypothyroidism diagnosed at age 6 months; dolichocephaly; prominent occiput; frontal bossing; triangular face; inverted epicanthic folds; small nose; micrognathia; low-set ears; cafe au lait spot of 8 cm diameter in left pectoral region with irregular borders; clinodactyly of hands; cranial CAT scan, eyes, abdomen and genitalia are normal; no evidence of malignancy; affected sister is GM21655; molecular analysis showed no BUB1B mutation |
| Watanabe K, Takao D, Ito KK, Takahashi M, Kitagawa D, The Cep57-pericentrin module organizes PCM expansion and centriole engagement Nature communications10:931 2017 |
| PubMed ID: 30804344 |
| Split Ratio |
1:2 |
| 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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