Cellosaurus cell line GM26602 (CVCL

Cell line name

GM26602

Accession

CVCL_RT85

To cite this cell line use: GM26602 (RRID:CVCL_RT85)

Comments

Population: Caucasian; German.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Leu318Pro (c.953T>C); ClinVar=VCV003769564; Zygosity=Heterozygous (Coriell=GM26602).
Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Arg390Pro (c.1169G>C); ClinVar=VCV000221580; Zygosity=Heterozygous (Coriell=GM26602).

Disease

Congenital disorder of deglycosylation (NCIt: C126746)
Alacrimia-choreoathetosis-liver dysfunction syndrome (ORDO: Orphanet_404454)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_A8RE (TRNDi018-A)	CVCL_A8RF (TRNDi018-B)	CVCL_A8RG (TRNDi018-C)
CVCL_A8RH (TRNDi018-D)

Originate from same individual

CVCL_RT84 ! GM26601

Sex of cell

Male

Age at sampling