Cellosaurus cell line GM03252 (CVCL

Cellosaurus GM03252 (CVCL_7379)

[Text version]

Cell line name

GM03252

Accession

CVCL_7379

Resource Identification Initiative

To cite this cell line use: GM03252 (RRID:CVCL_7379)

Comments

Part of: Genetic Testing Reference Material (GeT-RM) samples.
Population: Caucasian.
Derived from site: In situ; Fetus; UBERON=UBERON_0000323.
Cell type: Fibroblast; CL=CL_0000057.

Sequence variations

Mutation; HGNC; HGNC:11120; SMPD1; Simple; p.Leu304Pro (c.911T>C) (L302P); ClinVar=VCV000002989; Zygosity=Heterozygous (PubMed=19815695).

Disease

Niemann-Pick disease, type A (NCIt: C126561)
Niemann-Pick disease type A (ORDO: Orphanet_77292)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_WU18 (TRNDi009-A)

CVCL_WU19 (TRNDi009-B)

CVCL_WU20 (TRNDi009-C)

Sex of cell

Female

Age at sampling

21FW

Category

Finite cell line

Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=19815695; DOI=10.2353/jmoldx.2009.090050; PMCID=PMC2765751
Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J., Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M., Payeur T.L., Sellers T., Toji L.H., Muralidharan K.
Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish descent.
J. Mol. Diagn. 11:530-536(2009)

Cross-references

Cell line collections (Providers)

Coriell; GM03252

Cell line databases/resources

CLO; CLO_0003530
CLO; CLO_0016698
CLDB; cl1497

Biological sample resources

BioSample; SAMN00808326

Encyclopedic resources

Wikidata; Q54837975

Entry history

Entry creation

04-Apr-2012

Last entry update

19-Dec-2024

Version number