Description:
CRI-DU-CHAT SYNDROME
CHROMOSOME DELETION
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Ethnicity
|
Hispanic/Latino
|
Ethnicity
|
CUBAN
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,del(5)(pter>p15.3::p15.1>qter).ish del(5)(C84C11/t3+,D5S23-)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
7 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Remarks |
Clinically affected; mental retardation; barely microcephalic; severe myopia; microophthalmia; hypertelorism with down-slanting anti-mongoloid palpebral fissures; nose has flattened, widened bridge; no micrognathia, but large teeth; small chin; ears with malformed pinnae with superior fold; thick lips; short 5th metacarpals; in-toes and has somewhat awkward gait; delayed milestones; wears glasses for strabismus; voice not typical of Cri-du-Chat patients; same as GM16595 (lymph). |
Passage Frozen |
7 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
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 |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
|
|