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Cellosaurus GM27857 (CVCL_A2SN)

[Text version]
Cell line name GM27857
Synonyms GM27857*B
Accession CVCL_A2SN
Resource Identification Initiative To cite this cell line use: GM27857 (RRID:CVCL_A2SN)
Comments Population: Caucasian; Romanian and Indian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11055; SLC6A8; Unexplicit; Ex10-11del; Zygosity=Hemizygous (Coriell=GM27857).
Disease Cerebral creatine deficiency syndrome 1 (NCIt: C125665)
X-linked creatine transporter deficiency (ORDO: Orphanet_52503)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_YE57 (GM27448)
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM27857
Encyclopedic resources Wikidata; Q105507359
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7