NA25383
DNA from Fibroblast
Description:
CHOROIDEREMIA; CHM
CHM GENE; CHM
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases PIGI Consented Sample |
Quantity |
10 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
|
Skin
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Cell Type
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Fibroblast
|
Tissue Type
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Skin
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Transformant
|
Untransformed
|
Sample Source
|
DNA from Fibroblast
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
European
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
ISCN
|
46,XY.arr[hg19](1-22)x2,(XY)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
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PDL at Freeze |
5.88 |
Passage Frozen |
3 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Gene |
CHM |
Chromosomal Location |
Xq21.2 |
Allelic Variant 1 |
p.R270X; CHOROIDEREMIA |
Identified Mutation |
ARG270TER |
|
Gene |
CHM |
Chromosomal Location |
Xq21.2 |
Allelic Variant 1 |
; CHOROIDEREMIA |
Identified Mutation |
c.116+215insCCTTT |
|
Gene |
CHM |
Chromosomal Location |
Xq21.2 |
Allelic Variant 1 |
; CHOROIDEREMIA |
Identified Mutation |
c.116+80C>T |
Remarks |
Clinically affected; diagnosed at 13 years of age; onset of symptoms at 10 years of age; pigment mottling characteristic of choroideremia; decreased field of vision; abnormal ERG exam; at 12 years of age, an eye exam revealed the following: MD -13.64 DB (p<0.5), PSD 9.93 DB (p<0.5) for the left eye and MD -15.63 DB (p<0.5), PSD 10.90 DB (p<0.5) for the right eye; at 14 years, the visual acuity was OD #letters 79, Snellen 20/32 and OS #letters 84, Snellen 20/20 while the manifest retraction was OD -1.00 Sph=#Let 89=20/16, OS -1.00+0.25X100=#Let 91=20/16, RPE mottling, preservation of central macula; left eye average RPE thickness was 292 um and that for the right eye was 291 um; PCR sequence analysis revealed a causative hemizygous mutation in exon 6 of the CHM gene (Xq21.2): c.808C>T (p.Arg270Stop); sequencing also revealed hemizygous polymorphisms in intron 2 of the CHM gene: c.116+215insCCTTT (rs3078127) and c.116+80CC>T (rs1015148); treatment/management: omega 3, fish oil and lutein; same subject as GM25382 (LCL) and GM26663 (stem cell). |
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 |
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