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GM25421 Fibroblast from Skin, Skin

Description:

CHOROIDEREMIA; CHM
CHM GENE; CHM

Affected:

Yes

Sex:

Male

Age:

48 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Biopsy Source Skin
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Skin
Race White
Ethnicity Hispanic/Latino
Ethnicity Mexican
Country of Origin USA
Family Member 1
Family History Y
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; onset of symptoms around 14-16 years of age; diagnosed at 28 years of age by ophthalmologist; diminishing visual acuity; direct sequencing of CHM gene revealed a nonsense mutation in exon 5 (569 C>T, former nomenclature: 599C>G, S190X); assistive device: white cane; brother and second cousin are also affected (not in repository); see GM25420 for donor lymphoblast line.

Characterizations

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PDL at Freeze 2.24
Passage Frozen 1
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene CHM
Chromosomal Location Xq21.2
Allelic Variant 1 p.S190X; CHOROIDEREMIA
Identified Mutation SER190TER

Phenotypic Data

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Remarks Clinically affected; onset of symptoms around 14-16 years of age; diagnosed at 28 years of age by ophthalmologist; diminishing visual acuity; direct sequencing of CHM gene revealed a nonsense mutation in exon 5 (569 C>T, former nomenclature: 599C>G, S190X); assistive device: white cane; brother and second cousin are also affected (not in repository); see GM25420 for donor lymphoblast line.

Publications

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Sarkar H, Mitsios A, Smart M, Skinner J, Welch A, Kalatzis V, Coffey P, Dubis AM, Webster A, Moosajee M, Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics Human molecular genetics: 2019
PubMed ID: 30689859

External Links

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Gene Cards CHM
Gene Ontology GO:0004663 RAB-protein geranylgeranyltransferase activity
GO:0005084 Rab escort protein activity
GO:0005096 GTPase activator activity
GO:0005968 Rab-protein geranylgeranyltransferase complex
GO:0006886 intracellular protein transport
GO:0007601 visual perception
GO:0018348 protein amino acid geranylgeranylation
GO:0043087 regulation of GTPase activity
NCBI Gene Gene ID:1121
NCBI GTR 300390 CHM GENE; CHM
303100 CHOROIDEREMIA; CHM
OMIM 300390 CHM GENE; CHM
303100 CHOROIDEREMIA; CHM
Omim Description CHOROIDEREMIA; CHM
  GGTA, INCLUDED
  RAB ESCORT PROTEIN 1, INCLUDED; REP1, INCLUDED
  RAB GERANYLGERANYLTRANSFERASE, COMPONENT A, INCLUDED
  RAB GG TRANSFERASE, INCLUDED
  TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE; TCDCHOROIDAL SCLEROSIS, INCLUDED

Culture Protocols

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Cumulative PDL at Freeze 2.24
Passage Frozen 1
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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