GM24559
iPSC from Fibroblast
Description:
DYSTROPHIA MYOTONICA 1; DM1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Protocols |
Protocol PDF |
|
Biopsy Source
|
Skin
|
|
Cell Type
|
Stem cell
|
|
Cell Subtype
|
Induced pluripotent stem cell
|
|
Transformant
|
Reprogrammed (Episomal)
|
|
Sample Source
|
iPSC from Fibroblast
|
|
Race
|
White
|
|
Country of Origin
|
USA
|
|
Family Member
|
3
|
|
Family History
|
N
|
|
Relation to Proband
|
daughter
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XX,?del(8)(p23)[3]/46,XX[17]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
27 |
| |
| Induced Pluripotent Stem Cell |
The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and PluriTest. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the Certificate of Analysis. |
| |
| Gene |
DMPK |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 1 |
605377.0001; MYOTONIC DYSTROPHY |
| Identified Mutation |
(CTG)n EXPANSION; The consistent genetic defect associated with myotonic dystrophy is an amplified trinucleotide CTG repeat in the 3-prime untranslated region of the serine-threonine kinase gene DMK on 19q. Unaffected individuals have between 5 and 27 copies. DM patients who are minimally affected have at least 50 repeats, while more severely affected patients have expansion of the repeat-containing segment up to several kilobases. |
| Remarks |
Induced pluripotent stem cell derived from parental fibroblast GM04602; subject clinically affected; diagnosed shortly after birth; delivered prematurely (breech) and weighed 5 pounds 9 ounces; vigorous resuscitation required and on respirator for approximately three months after birth; hypotonia at birth; scoliosis developed at approximately 4 months of age and required body brace; by age 2 there was delay in communication skills, inability to sit without support, delayed fine motor adaptive skills, difficulty maintaining head control, delayed milestones; high-arched palate; thin, long face with moderate facial weakness; inability to completely close eyelids; thin, elongated head; hypertelorism; little facial movement; bilateral nonobligatory tonic neck responses; reduced muscle tone and reduced muscle bulk in all extremities; clinical and electrical myotonia; donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1600 (minor species at 2400) in the DMPK gene; affected mother is GM04608; affected sister is GM04601; maternal grandfather is GM06076; see GM04602 fibroblast and GM06077 lymphocyte. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is iPS Academia Japan, Inc.. |
| NCBI GTR |
160900 MYOTONIC DYSTROPHY 1; DM1 |
| OMIM |
160900 MYOTONIC DYSTROPHY 1; DM1 |
| Omim Description |
DM PROTEIN KINASE, INCLUDED |
| |
DYSTROPHIA MYOTONICA; DM |
| |
DYSTROPHIA MYOTONICA; DMPK |
| |
MYOTONIC DYSTROPHY |
| |
MYOTONIC DYSTROPHY PROTEIN KINASE, INCLUDED; MDPK, INCLUDED |
| |
MYOTONIN-PROTEIN KINASE, INCLUDED |
| |
STEINERT DISEASEDM-KINASE, INCLUDED; DMK, INCLUDED |
| Passage Frozen |
27 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
mTeSR1 |
| Serum |
none Not inactivated |
| Substrate |
Matrigel |
| Supplement |
- |
|