ID   UAMi001-B
AC   CVCL_UM92
SY   PCCA23-FiPS4F6
DR   Wikidata; Q98133802
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Solicitud_deposito_IPS-PCCA23-Fi%2520PS4F6-v2.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Centro de Biologia Molecular Severo Ochoa, Universidad Autonoma de Madrid; Madrid; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:8653; PCCA; Simple; p.Gly477Glufs*9 (c.1430-?_1643+?del); Zygosity=Heterozygous (BNLC).
CC   Sequence variation: Mutation; HGNC; HGNC:8653; PCCA; Simple; p.Cys616_Val633del (c.1899+4_1899+7delAGTA) (1824IVS+3del4) (IVS21+3del4); Zygosity=Heterozygous (BNLC).
CC   Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85030; Propionic acidemia
DI   ORDO; Orphanet_35; Propionic acidemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_QX83 ! UAMi001-A
SX   Female
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 10-04-25; Version: 13
//