GM05264
Fibroblast from Skin, Unspecified
Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Muscular Dystrophies dbGaP |
Class |
Congenital Muscle Diseases |
Biopsy Source
|
Unspecified
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
Race
|
White
|
Family Member
|
2
|
Relation to Proband
|
mother
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
6.29 |
Passage Frozen |
4 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically unaffected; mother of an affected child (GM05263) |
Kozareva V, Stroff C, Silver M, Freidin JF, Delaney NF, Clinical analysis of germline copy number variation in DMD using a non-conjugate hierarchical Bayesian model BMC medical genomics11:91 2018 |
PubMed ID: 30342520 |
|
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
PubMed ID: 23665875 |
dbSNP |
dbSNP ID: 15382 |
NCBI GTR |
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
OMIM |
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
Omim Description |
APO-DYSTROPHIN 1, INCLUDED |
|
BMDDYSTROPHIN, INCLUDED; DMD, INCLUDED |
|
CARDIOMYOPATHY, X-LINKED DILATED, INCLUDED; XLCM, INCLUDED |
|
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKERTYPES; DMD |
Cumulative PDL at Freeze |
6.29 |
Passage Frozen |
4 |
Split Ratio |
1:2 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
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 |
Substrate |
None specified |
Supplement |
- |
|
|