Cellosaurus cell line GM11853 (CVCL

Cell line name

GM11853

Accession

CVCL_T824

To cite this cell line use: GM11853 (RRID:CVCL_T824)

Comments

Population: Jewish; Ashkenazi.
Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; 4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Homozygous (Coriell=GM11853).

Disease

Tay-Sachs disease (NCIt: C85184)
Tay-Sachs disease (ORDO: Orphanet_845)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_T822 (GM23937)

Originate from same individual

CVCL_T823 ! GM11852

Sex of cell

Male

Age at sampling