Cellosaurus cell line HT707 (CVCL

Cell line name

HT707

Accession

CVCL_F0Y7

To cite this cell line use: HT707 (RRID:CVCL_F0Y7)

Comments

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

Sequence variations

Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Pro68Argfs*23 (c.203delC); ClinVar=VCV001321450; Zygosity=Heterozygous (PubMed=40568761).
Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Arg296Ter (c.886C>T) (R247X); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=40568761).
Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=40568761).

Disease

Gaucher disease (NCIt: C61268)
Gaucher disease (ORDO: Orphanet_355)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_F0Y8 (HT707 TH-neo)

Sex of cell

Female

Age at sampling

60Y