Cellosaurus cell line GM27353 (CVCL

Cell line name

GM27353

Accession

CVCL_XC49

To cite this cell line use: GM27353 (RRID:CVCL_XC49)

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:20311; CHAMP1; Simple; p.Arg497Ter (c.1489C>T); ClinVar=VCV000210050; Zygosity=Heterozygous (Coriell=GM27353).

Disease

Mental retardation, autosomal dominant 40 (NCIt: C163754)
Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_ZH98 (GM27860)

Originate from same individual

CVCL_XC48 ! GM27412

Sex of cell

Male

Age at sampling

1Y11M