Cellosaurus cell line BCHi011-A (CVCL

Cellosaurus BCHi011-A (CVCL_D6RZ)

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Cell line name

BCHi011-A

Synonyms

HNDS0003-01 #F

Accession

CVCL_D6RZ

Resource Identification Initiative

To cite this cell line use: BCHi011-A (RRID:CVCL_D6RZ)

Comments

From: Children's Hospital Boston; Boston; USA.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.

Sequence variations

Mutation; HGNC; HGNC:408; ALDH5A1; Simple; p.Trp204Ter (c.612G>A); ClinVar=VCV000001357; Zygosity=Heterozygous (PubMed=38677032).
Mutation; HGNC; HGNC:408; ALDH5A1; Simple; p.Arg412Ter (c.1234C>T); ClinVar=VCV000001358; Zygosity=Heterozygous (PubMed=38677032).

Disease

Succinic semialdehyde dehydrogenase deficiency (NCIt: C206527)
Succinic semialdehyde dehydrogenase deficiency (ORDO: Orphanet_22)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Hierarchy

Children:

CVCL_D6S0 (BCHi011-A-1)

Sex of cell

Male

Age at sampling