GM14817
LCL from B-Lymphocyte
Description:
CLEFT LIP/PALATE - ECTODERMAL DYSPLASIA SYNDROME; CLPED1
POLIOVIRUS RECEPTOR-LIKE 1; PVRL1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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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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Race
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White
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Ethnicity
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HISPANIC
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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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Clinical summary/Case history
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
PVRL1 |
| Chromosomal Location |
11q23-q24 |
| Allelic Variant 1 |
600644.0001; ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE |
| Identified Mutation |
TRP185TER |
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| Gene |
PVRL1 |
| Chromosomal Location |
11q23-q24 |
| Allelic Variant 2 |
600644.0001; ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE |
| Identified Mutation |
TRP185TER |
| Remarks |
Sparse, short brittle hair; hypodontia and anodontia; scanty eyebrows and lower lashes; triangular facies; anteverted pinnae; cleft lip and soft palate; abnormal scalp; hyperkeratosis; cutaneous syndactyly of hands; see GM14818 Fibroblast; donor subject is homozygous for a G>A transition in exon 3 of the PVRL1 gene (TGG>TAG) resulting in the substitution of a termination signal for tryptophan at codon 185 [Trp185Ter (W185X)] and truncation of the MECTIN-1 protein |
| Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A, Helms JA, Spritz RA, Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet25(4):427-30 2000 |
| PubMed ID: 10932188 |
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| Bustos T, Simosa V, Pinto-Cisternas J, Abramovits W, Jolay L, Rodriguez L, Fernandez L, Ramela M, Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome. Am J Med Genet41:398-404 1991 |
| PubMed ID: 1776626 |
| Split Ratio |
1:3 |
| 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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