NG02506

NG02506 DNA from Fibroblast

Description:

MULIBREY NANISM
TRIPARTITE MOTIF-CONTAINING PROTEIN 37; TRIM37

Affected:

Yes

Sex:

Female

Age:

9 YR (At Sampling)

Overview

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Repository

NIA Aging Cell Culture Repository

Subcollection

Heritable Diseases

Quantity

10 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Skin

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

DNA from Fibroblast

Race

White

Ethnicity

FINNISH

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

The donor was clinically affected. The biopsy was taken 6/20/77. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. The donor subject is homozygous for a 5 bp deletion at nucleotides 493-497 of the TRIM37 cDNA. An A>G transition in the genomic sequence altering the consensus dinucleotide sequence of the 3 prime splice site (AG) at position -2 from nucleotide 493 of the cDNA results in aberrant splicing at the next AG site. The cDNA deletion caused a frameshift and predicted a stop codon 10 codons downstream.

Characterizations

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PDL at Freeze

4

Passage Frozen

2

Gene

TRIM37

Chromosomal Location

17q22-q23

Allelic Variant 1

605073.0001; MULIBREY NANISM

Identified Mutation

493-2A>G

Gene

TRIM37

Chromosomal Location

17q22-q23

Allelic Variant 2

605073.0001; MULIBREY NANISM

Identified Mutation

493-2A>G

Phenotypic Data

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Remarks

The donor was clinically affected. The biopsy was taken 6/20/77. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. The donor subject is homozygous for a 5 bp deletion at nucleotides 493-497 of the TRIM37 cDNA. An A>G transition in the genomic sequence altering the consensus dinucleotide sequence of the 3 prime splice site (AG) at position -2 from nucleotide 493 of the cDNA results in aberrant splicing at the next AG site. The cDNA deletion caused a frameshift and predicted a stop codon 10 codons downstream.

External Links

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dbSNP

dbSNP ID: 14973

Gene Cards

Gene Ontology

GO:0000151 ubiquitin ligase complex

GO:0004842 ubiquitin-protein ligase activity

GO:0008270 zinc ion binding

GO:0016567 protein ubiquitination

NCBI Gene

NCBI GTR

253250 MULIBREY NANISM

605073 TRIPARTITE MOTIF-CONTAINING PROTEIN 37; TRIM37

OMIM

253250 MULIBREY NANISM

605073 TRIPARTITE MOTIF-CONTAINING PROTEIN 37; TRIM37

Omim Description

MULIBREY NANISM; MUL

PERHEENTUPA SYNDROME

PERICARDIAL CONSTRICTION AND GROWTH FAILURE

Pricing

Commercial:

$155.00USD

Academic &
Non-profit:

$72.00USD

NIA Grantees:

$62.00USD