Description:
SCHUURS-HOEIJMAKERS SYNDROME; SHMS
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Cell Type
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Fibroblast
|
|
Transformant
|
Untransformed
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|
Race
|
White
|
|
Subject Type
|
parent/child discordant pair
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|
Family Type
|
NUCLEAR FAMILIES - ONE AFFECTED
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Ethnicity
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Not Hispanic/Latino
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|
Country of Origin
|
USA
|
|
Family Member
|
2
|
|
Family History
|
N
|
|
Relation to Proband
|
mother
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
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Homo sapiens
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|
Common Name
|
Human
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|
Remarks
|
|
| PDL at Freeze |
5.31 |
| Passage Frozen |
2 |
| |
| Remarks |
Unaffected mother of GM30081. Carrier of Phenylalanine hydroxylase deficiency, PAH c.898G>T(A300S), heterozygote. Carrier of nephrotic syndrome, NPHS2 c.686G>A(R229Q), heterozygote. |
| Cumulative PDL at Freeze |
5.31 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| 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 |
- |
|
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