Cellosaurus cell line GM04959 (CVCL

Cell line name

GM04959

Accession

CVCL_AA43

To cite this cell line use: GM04959 (RRID:CVCL_AA43)

Comments

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

Sequence variations

Mutation; HGNC; HGNC:5959; ELP1; Simple; c.2204+6T>C (2507+6T>C) (IVS20+6T>C) (Ex20del); ClinVar=VCV000006085; Zygosity=Homozygous (Coriell=GM04959).

Disease

Familial dysautonomia (NCIt: C84706)
Familial dysautonomia (ORDO: Orphanet_1764)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_C7MI (GM28399)

Originate from same individual

CVCL_AA44 ! GM04960

Sex of cell

Female

Age at sampling

10Y