GM27978
iPSC from Fibroblast
Description:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Protocols |
Protocol PDF |
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Biopsy Source
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Skin
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Cell Type
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Stem cell
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Cell Subtype
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Induced pluripotent stem cell
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Transformant
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Reprogrammed (Sendai)
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Sample Source
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iPSC from Fibroblast
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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ISCN
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46,XY[20]
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
17 |
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| Induced Pluripotent Stem Cell |
The parental cell line was recovered, reprogrammed to an induced pluripotent stem cell line, and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. 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. |
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| Gene |
CHAMP1 |
| Chromosomal Location |
13q34 |
| Allelic Variant 1 |
616327.1; MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40 |
| Identified Mutation |
c.542_543delCT (p.S181Cfs*5) |
| Remarks |
Clinically affected; born 37-3/7 weeks gestation via cesarean for failure to progress after induction with Pitocin; congenital hypotonia; up slanting palpebral fissures; bilateral epicanthal folds; hypertelorism; nose has short tip and a prominent columella; chin mildly prognathic; gastroesophageal reflux; hypothyroidism; delayed developmental milestones; delayed in walking, running, and potty training; gross motor development delay; speech delay; autism; heterozygous mutation in CHAMP1 gene: c.542_543delCT (p.S181CfsX5); therapies include: physical, occupational, and speech therapy; currently takes fish oil, MCT oil, carnitine, vitamin D, and vitamin B complex; same subject as GM27458 (lymph) and GM27408 (fibroblast); 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 Sendai-CytoTune. |
| Passage Frozen |
17 |
| Split Ratio |
1:4 |
| 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 |
| Substrate |
Feeder layer |
| Supplement |
Basic Fibroblast Growth Factor 10 ng/ml |
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