Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Muscular Dystrophies
Protocols Protocol PDF
Biopsy Source Skin
Cell Type Stem cell
Tissue Type Induced pluripotent stem cell
Transformant Reprogrammed (Episomal)
Race Caucasian
Country of Origin USA
Family Member 3
Family History N
Relation to Proband daughter
Confirmation Clinical summary/Case history
ISCN 46,XX[23]
Species Homo sapiens
Common Name Human
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.
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.
 
Remark 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.
No data is available
No data is available
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine or equivalent
Serum 20% Knock-out Serum Replacement Not inactivated