Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Quantity 50 µg
Quantitation Method Please see our FAQ
Biopsy Source Skin
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race Caucasian
Hispanic 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 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).
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
Remark 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
No data is available
Cumulative PDL at Freeze 5.88
Passage Frozen 3
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids
Serum 15% fetal bovine serum Not inactivated