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Cellosaurus UAMi001-B (CVCL_UM92)

[Text version]
Cell line name UAMi001-B
Synonyms PCCA23-FiPS4F6
Accession CVCL_UM92
Resource Identification Initiative To cite this cell line use: UAMi001-B (RRID:CVCL_UM92)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Centro de Biologia Molecular Severo Ochoa, Universidad Autonoma de Madrid; Madrid; Spain.
Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 8653; PCCA; Simple; p.Cys616_Val633del (c.1899+4_1899+7delAGTA) (1824IVS+3del4) (IVS21+3del4); Zygosity=Heterozygous (BNLC).
  • Mutation; HGNC; 8653; PCCA; Simple; p.Gly477Glufs*9 (c.1430-?_1643+?del); Zygosity=Heterozygous (BNLC).
Disease Propionic acidemia (NCIt: C85030)
Propionic acidemia (ORDO: Orphanet_35)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_QX83 ! UAMi001-A
Sex of cell Female
Age at sampling 11Y
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/152/Caracteristicas%20-%20Solicitud_deposito_IPS-PCCA23-Fi%20PS4F6-v2.pdf
Encyclopedic resources Wikidata; Q98133802
Entry history
Entry creation25-Feb-2019
Last entry update30-Jan-2024
Version number11