GM10796
Fibroblast from Skin, Unspecified
Description:
ALPHA-THALASSEMIA
HEMOGLOBIN--ALPHA LOCUS 1; HBA1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Mutations of the Hemoglobin Loci |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Race
|
Asian
|
|
Ethnicity
|
FILIPINO
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
1 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
HBA1 |
| Chromosomal Location |
16pter-p13.3 |
| Allelic Variant 1 |
; ALPHA-THALASSEMIA TYPE 1 |
| Identified Mutation |
Fil Type Deletion |
| |
| Gene |
HBA1 |
| Chromosomal Location |
16pter-p13.3 |
| Allelic Variant 2 |
; ALPHA-THALASSEMIA TYPE 1 |
| Identified Mutation |
SEA Type Deletion |
| Remarks |
Filipino; skin biopsy; hydrops fetalis; ambiguous genitalia; 46,XY in cultured amniotic fluid cells; alpha-1 thalassemia; mother, GM10798, has total Filipino del; father, GM10799, has Southeast Asian double alpha del; child is --FIL/--SEA. |
| Hong R1, Chandola U1, Zhang LF2., Cat-D: a targeted sequencing method for the simultaneous detection of small DNA mutations and large DNA deletions with flexible boundaries. Sci Rep7(1):15701 2017 |
| PubMed ID: 29146914 |
| Passage Frozen |
1 |
| Split Ratio |
1:5 |
| 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 |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|