Cellosaurus cell line D2 [Human Dravet fibroblast] (CVCL

Cellosaurus D2 [Human Dravet fibroblast] (CVCL_A3YQ)

[Text version]

Cell line name

D2 [Human Dravet fibroblast]

Accession

CVCL_A3YQ

Resource Identification Initiative

To cite this cell line use: D2 [Human Dravet fibroblast] (RRID:CVCL_A3YQ)

Comments

Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:10585; SCN1A; Simple; p.Tyr1102Ter (c.3306C>A); ClinVar=VCV000217243; Zygosity=Heterozygous (PubMed=25732146).

Disease

Developmental and epileptic encephalopathy 6A (NCIt: C147071)
Dravet syndrome (ORDO: Orphanet_33069)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_ZW11 (FUi003-A1)

CVCL_ZW12 (FUi003-A2)

Sex of cell

Female

Age at sampling

Category

Finite cell line

Publications

PubMed=25732146; DOI=10.2174/1566524015666150303110300; PMCID=PMC4428755
Kano S.-i., Yuan M., Cardarelli R.A., Maegawa G., Higurashi N., Gaval-Cruz M., Wilson A.M., Tristan C.A., Kondo M.A., Chen Y., Koga M., Obie C., Ishizuka K., Seshadri S., Srivastava R., Kato T.A., Horiuchi Y., Sedlak T.W., Lee Y., Rapoport J.L., Hirose S., Okano H., Valle D.L., O'Donnell P., Sawa A., Kai M.
Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy.
Curr. Mol. Med. 15:138-145(2015)

Cross-references

Encyclopedic resources

Wikidata; Q105506733

Entry history

Entry creation

12-Jan-2021

Last entry update

19-Dec-2024

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