Cellosaurus cell line GM26612 (CVCL

Cell line name

GM26612

Accession

CVCL_RT93

To cite this cell line use: GM26612 (RRID:CVCL_RT93)

Comments

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

Sequence variations

Mutation; HGNC; 17646; NGLY1; Simple; p.Arg401Ter (c.1201A>T); ClinVar=VCV000050962; Zygosity=Homozygous (Coriell=GM26612).

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_XI86 (TRNDi010-A)	CVCL_XI87 (TRNDi010-B)	CVCL_XI88 (TRNDi010-C)
CVCL_B5GI (TRNDi010-D)

Originate from same individual

CVCL_RT92 ! GM26611

Sex of cell

Female

Age at sampling

16Y