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Cellosaurus ESi036-A (CVCL_V153)

[Text version]
Cell line name ESi036-A
Synonyms [CRTRd]FiPS3067-4F-9
Accession CVCL_V153
Resource Identification Initiative To cite this cell line use: ESi036-A (RRID:CVCL_V153)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Centro de Medecina Regenerativa de Barcelona (CMRB); Barcelona; Spain.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 11055; SLC6A8; Simple; p.Pro544Leu (c.1631C>T); ClinVar=VCV000065692; Zygosity=Hemizygous (BNLC).
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)
Sex of cell Male
Age at sampling Adult
Category Induced pluripotent stem cell
Web pages https://p-cmrc.cat/wp-content/uploads/2020/06/VFDeposito_Lineas_-CRTRdFiPS3067-4F-9.pdf
Cell line databases/resources hPSCreg; ESi036-A
ISCR; 2261
SKIP; SKIP002539
Encyclopedic resources Wikidata; Q54832784
Entry history
Entry creation16-Apr-2014
Last entry update30-Jan-2024
Version number18