GM27408
Fibroblast from Skin, Thigh
Description:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
PIGI Consented Sample |
|
Biopsy Source
|
Thigh
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Thigh
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
ISCN
|
46,XY[20]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.41 |
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| 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 GM27978 (iPSC). |
| Cumulative PDL at Freeze |
5.41 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| 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 |
| Supplement |
- |
|
|