Cellosaurus cell line AIDHC-SP31 (CVCL

Cellosaurus AIDHC-SP31 (CVCL_C1ZP)

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Cell line name

AIDHC-SP31

Accession

CVCL_C1ZP

Resource Identification Initiative

To cite this cell line use: AIDHC-SP31 (RRID:CVCL_C1ZP)

Comments

From: Nemours Children's Hospital; Wilmington; USA.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Gene deletion; HGNC; HGNC:11117; SMN1; Zygosity=Heterozygous (PubMed=28284873).
Mutation; HGNC; HGNC:11117; SMN1; Simple; p.Ala2Gly (c.5C>G) (38C-G); ClinVar=VCV000009168; Zygosity=Heterozygous (PubMed=28284873).

Disease

Spinal muscular atrophy type 3 (NCIt: C118847)
Proximal spinal muscular atrophy type 3 (ORDO: Orphanet_83419)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Male

Age at sampling

Age unspecified

Category

Finite cell line

STR profile

Source(s): PubMed=28284873

Markers:

Amelogenin	X,Y
CSF1PO	8,11
D5S818	12
D7S820	10,11
D13S317	11
D16S539	11
TH01	7,8
TPOX	8
vWA	15,18

Publications

PubMed=28284873; DOI=10.1016/j.nmd.2017.02.002; PMCID=PMC5403612
Deborah L. Stabley, Jennifer Holbrook, Ashlee W. Harris, Kathryn J. Swoboda, Thomas Owen Crawford, Katia Sol-Church, Matthew E.R. Butchbach;
Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.
Neuromuscul. Disord. 27:439-446(2017)

Cross-references

Encyclopedic resources

Wikidata; Q114310613

Entry history

Entry creation

22-Sep-2022

Last entry update

10-Apr-2025

Version number